F57Y (p.Phe57Tyr) variant of SRSF2 (Q01130)
F57Y (p.Phe57Tyr) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
F57Y (p.Phe57Tyr) variant details
- p.Phe57Tyr
- cosmic curated COSV57969
- ESP rs369871019
- ExAC rs369871019
- gnomAD rs369871019
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.62
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)