E14G (p.Glu14Gly) variant of BLM (RecQ-like DNA helicase BLM)
E14G (p.Glu14Gly) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- ExAC rs759714714
- TOPMed rs759714714
- gnomAD rs759714714
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.15
- CADD 25.80
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available