D9Y (p.Asp9Tyr) variant of SRSF2 (Q01130)
D9Y (p.Asp9Tyr) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- gnomAD 17-76737136-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.60
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.06
- Population evidence available
- Literature evidence available