R5L (p.Arg5Leu) variant of SRSF2 (Q01130)
R5L (p.Arg5Leu) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and published literature.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 17-76737147-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.61
- CADD 30.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Literature evidence available