R5H (p.Arg5His) variant of SRSF2 (Q01130)
R5H (p.Arg5His) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
R5H (p.Arg5His) variant details
- p.Arg5His
- gnomAD 17-76737147-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.39
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.10
- Population evidence available
- Literature evidence available