G4C (p.Gly4Cys) variant of SRSF2 (Q01130)
G4C (p.Gly4Cys) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
G4C (p.Gly4Cys) variant details
- p.Gly4Cys
- gnomAD 17-76737151-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.28
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.07
- Population evidence available
- Literature evidence available