G56A (p.Gly56Ala) variant of SRSF2 (Q01130)
G56A (p.Gly56Ala) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
G56A (p.Gly56Ala) variant details
- p.Gly56Ala
- gnomAD 17-76736994-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.92
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available