H16Q (p.His16Gln) variant of BLM (RecQ-like DNA helicase BLM)
H16Q (p.His16Gln) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H16Q (p.His16Gln) variant details
- p.His16Gln
- gnomAD 15-90747440-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.22
- CADD 22.60
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available