S2G (p.Ser2Gly) variant of SRSF2 (Q01130)
S2G (p.Ser2Gly) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- gnomAD 17-76737157-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.17
- CADD 26.20
- PolyPhen-2 0.47
- SIFT 0.01
- Population evidence available
- Literature evidence available