V10M (p.Val10Met) variant of SRSF2 (Q01130)
V10M (p.Val10Met) 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.
V10M (p.Val10Met) variant details
- p.Val10Met
- gnomAD 17-76737133-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.31
- CADD 27.50
- PolyPhen-2 0.92
- SIFT 0.06
- Population evidence available
- Literature evidence available