E11D (p.Glu11Asp) variant of BLM (RecQ-like DNA helicase BLM)
E11D (p.Glu11Asp) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD 15-90747425-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- CADD 21.20
- PolyPhen-2 0.18
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available