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OAS1 Mutations Identified in Three Unrelated Families with GPAP
| Variants |
Prediction Software |
Grantham Score | ||
|---|---|---|---|---|
| SIFT | PolyPhen-2 | MutationTaster | ||
| c.227C>T (p.Ala76Val) | 0.08 (tolerated) | 0.936 (probably damaging) | polymorphism | 64 |
| c.326G>A (p.Cys109Tyr) | 0.18 (tolerated) | 0.715 (possibly damaging) | polymorphism | 194 |
| c.592C>G (p.Leu198Val) | 1.00 (tolerated) | 0.349 (benign) | polymorphism | 32 |
