Table 1.
Variant Effect Predictor analysis of missense variants in DYRK1B
| Variant | Nucleotide change | Amino acid change | SIFTa | PolyPhen2 |
|---|---|---|---|---|
| rs746933234 | c.755G > A | p.Arg252His | Deleterious (0.02) | Probably damaging (0.996) |
| rs373850179 | c.202A > C | p.Lys68Gln | Deleterious (0.01) | Possibly damaging (0.713) |
| rs34587974 | c.83T > C | p.Leu28Pro | Deleterious (0.01) | Possibly damaging (0.563) |
| rs752428936 | c.1306G > A | p.Asp436Asn | Deleterious (0.05) | Probably damaging (0.957) |
| rs148788670 | c.1733C > T | p.Pro578Leu | Tolerated-low confidence (0.23) | Benign (0) |
| rs144370928 | c.209G > A | p.Arg70Gln | Tolerated (0.06) | Benign (0.047) |
| rs771417583 | c.1666A > C | p.Thr556Pro | Deleterious-low confidence (0) | Benign (0) |
aSIFT sorting tolerant from intolerant