S54S (p.Ser54Ser) variant of SRSF2 (Q01130)
S54S (p.Ser54Ser) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and published literature.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- rs773650940
- gnomAD 17-76736999-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 14.40
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Literature evidence available