K56E (p.Lys56Glu) variant of BLM (RecQ-like DNA helicase BLM)
K56E (p.Lys56Glu) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- gnomAD 15-90749434-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.03
- CADD 13.40
- PolyPhen-2 0.06
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available