S2S (p.Ser2Ser) variant of SRSF2 (Q01130)
S2S (p.Ser2Ser) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and published literature.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- rs1161360426
- gnomAD 17-76737155-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 10.80
- Most common in the East Asian population (allele frequency 7.8e-05)
- Literature evidence available