Table 1.
Missense variants selected for Y2H assays
| Gene | Mutation | MAF | SIFT scores | SIFT prediction | P2 | LRT | PhyloP46 | MT | G++ |
|---|---|---|---|---|---|---|---|---|---|
| RAD51 | A55V* | 0.0015 | 0.05 | D | POD | D | D | D | D |
| RAD51 | A79D* | . | 0.41 | T | B | . | D | D | D |
| RAD51C | C135R | . | 0 | D | PRD | D | D | N | D |
| RAD51D | A34V | . | 0.29 | T | PRD | D | D | D | D |
| XRCC2 | F270V | 0.0084 | 0 | D | PRD | D | D | D | D |
| XRCC3 | L297P* | . | 0.26 | T | POD | D | B | D | B |
| XRCC3 | V337E | . | 0 | D | PRD | D | D | D | D |
Abbreviations: MAF, allele frequency in African Americans in the ExAC database; P2, PolyPhen2; MT, Mutation Taster; G++, GERP++; D, deleterious; T, tolerated; B, benign; POD, possibly damaging; PRD, probably damaging; N, neutral.
*
Variants selected for Y2H experiment based on modeling of mutation effect on protein stability. The other variants were selected based on SIFT, Polyphen2, LRT, PhloP46, Mutation Taster, and GERP++ prediction scores.