E11G (p.Glu11Gly) variant of SRSF2 (Q01130)
E11G (p.Glu11Gly) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- gnomAD 17-76737129-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.26
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Literature evidence available