H63H (p.His63His) variant of SRSF2 (Q01130)
H63H (p.His63His) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
H63H (p.His63His) variant details
- p.His63His
- rs1176463751
- gnomAD 17-76736972-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 13.40
- Most common in the South Asian population (allele frequency 0.00013)
- Literature evidence available