V47I (p.Val47Ile) variant of BLM (RecQ-like DNA helicase BLM)
V47I (p.Val47Ile) 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 0.13 / 1. The record also includes population frequency data and structural context.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- TOPMed rs1895601046
- gnomAD rs1895601046
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.10
- CADD 6.27
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available