V18V (p.Val18Val) variant of SRSF2 (Q01130)
V18V (p.Val18Val) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
V18V (p.Val18Val) variant details
- p.Val18Val
- rs1230550019
- gnomAD 17-76737107-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 14.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available