G4V (p.Gly4Val) variant of SRSF2 (Q01130)
G4V (p.Gly4Val) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- gnomAD 17-76737150-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.30
- CADD 24.50
- PolyPhen-2 0.89
- SIFT 0.08
- Population evidence available
- Literature evidence available