L21V (p.Leu21Val) variant of SRSF2 (Q01130)
L21V (p.Leu21Val) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- gnomAD 17-76737100-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.80
- CADD 24.90
- PolyPhen-2 0.87
- SIFT 0.06
- Population evidence available
- Literature evidence available