R5C (p.Arg5Cys) variant of SRSF2 (Q01130)
R5C (p.Arg5Cys) 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.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- gnomAD 17-76737148-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.38
- CADD 27.30
- PolyPhen-2 0.82
- SIFT 0.08
- Population evidence available
- Literature evidence available