R47R (p.Arg47Arg) variant of SRSF2 (Q01130)
R47R (p.Arg47Arg) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
R47R (p.Arg47Arg) variant details
- p.Arg47Arg
- gnomAD 17-76737020-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 16.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available