H63Q (p.His63Gln) variant of SRSF2 (Q01130)
H63Q (p.His63Gln) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
H63Q (p.His63Gln) variant details
- p.His63Gln
- TOPMed rs1176463751
- gnomAD rs1176463751
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.24
- CADD 23.70
- PolyPhen-2 0.93
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)