R83H (p.Arg83His) variant of SRSF2 (Q01130)
R83H (p.Arg83His) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
R83H (p.Arg83His) variant details
- p.Arg83His
- gnomAD rs1249242916
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.67
- CADD 25.10
- PolyPhen-2 0.64
- SIFT 0.15
- Population evidence available