R66C (p.Arg66Cys) variant of SRSF2 (Q01130)
R66C (p.Arg66Cys) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
R66C (p.Arg66Cys) variant details
- p.Arg66Cys
- cosmic curated COSV10463
- TOPMed rs1427451925
- gnomAD rs1427451925
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.73
- CADD 28.80
- PolyPhen-2 0.56
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 3e-05)