S26A (p.Ser26Ala) variant of SRSF2 (Q01130)
S26A (p.Ser26Ala) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
S26A (p.Ser26Ala) variant details
- p.Ser26Ala
- gnomAD 17-76737085-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.38
- CADD 24.70
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available