G34D (p.Gly34Asp) variant of BLM (RecQ-like DNA helicase BLM)
G34D (p.Gly34Asp) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- gnomAD 15-90749369-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.18
- CADD 24.60
- PolyPhen-2 0.83
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available