Y44H (p.Tyr44His) variant of SRSF2 (Q01130)
Y44H (p.Tyr44His) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
Y44H (p.Tyr44His) variant details
- p.Tyr44His
- cosmic curated COSV57974
- Ensembl rs1782475642
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.38
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)