Y3C (p.Tyr3Cys) variant of SRSF2 (Q01130)
Y3C (p.Tyr3Cys) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
Y3C (p.Tyr3Cys) variant details
- p.Tyr3Cys
- gnomAD 17-76737153-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.29
- CADD 23.60
- PolyPhen-2 0.15
- SIFT 0.15
- Population evidence available
- Literature evidence available