G4S (p.Gly4Ser) variant of SRSF2 (Q01130)
G4S (p.Gly4Ser) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
G4S (p.Gly4Ser) variant details
- p.Gly4Ser
- gnomAD 17-76737151-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.22
- CADD 21.30
- PolyPhen-2 0.15
- SIFT 1.00
- Population evidence available
- Literature evidence available