R5S (p.Arg5Ser) variant of SRSF2 (Q01130)
R5S (p.Arg5Ser) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- gnomAD 17-76737148-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.31
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Literature evidence available