V4A (p.Val4Ala) variant of BLM (RecQ-like DNA helicase BLM)
V4A (p.Val4Ala) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- rs144706057
- ClinGen CA287052
- cosmic curated COSV10466
- ClinVar RCV000115279
- Conflicting interpretations
- Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.12
- CADD 23.60
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer; Hereditary cancer-predisposing syndrome; not)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)