E11D (p.Glu11Asp) variant of SRSF2 (Q01130)
E11D (p.Glu11Asp) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD 17-76737128-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.26
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Literature evidence available