Y3H (p.Tyr3His) variant of SRSF2 (Q01130)
Y3H (p.Tyr3His) 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.
Y3H (p.Tyr3His) variant details
- p.Tyr3His
- gnomAD rs1474816451
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.26
- CADD 28.40
- PolyPhen-2 0.92
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)