R55R (p.Arg55Arg) variant of SRSF2 (Q01130)
R55R (p.Arg55Arg) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
R55R (p.Arg55Arg) variant details
- p.Arg55Arg
- gnomAD 17-76736996-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 14.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available