T41K (p.Thr41Lys) variant of BLM (RecQ-like DNA helicase BLM)
T41K (p.Thr41Lys) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T41K (p.Thr41Lys) variant details
- p.Thr41Lys
- gnomAD 15-90749390-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.06
- CADD 16.30
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available