R39G (p.Arg39Gly) variant of SRSF2 (Q01130)
R39G (p.Arg39Gly) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
R39G (p.Arg39Gly) variant details
- p.Arg39Gly
- gnomAD 17-76737046-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.33
- CADD 25.50
- PolyPhen-2 0.62
- SIFT 0.25
- Population evidence available
- Literature evidence available