Q10K (p.Gln10Lys) variant of BLM (RecQ-like DNA helicase BLM)
Q10K (p.Gln10Lys) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q10K (p.Gln10Lys) variant details
- p.Gln10Lys
- gnomAD 15-90747420-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.14
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available