A74V (p.Ala74Val) variant of SRSF2 (Q01130)
A74V (p.Ala74Val) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
A74V (p.Ala74Val) variant details
- p.Ala74Val
- gnomAD 17-76736940-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.21
- CADD 32.00
- PolyPhen-2 0.69
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available