K24T (p.Lys24Thr) variant of BLM (RecQ-like DNA helicase BLM)
K24T (p.Lys24Thr) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K24T (p.Lys24Thr) variant details
- p.Lys24Thr
- gnomAD 15-90747463-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.10
- CADD 21.60
- PolyPhen-2 0.19
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available