V4F (p.Val4Phe) variant of BLM (RecQ-like DNA helicase BLM)
V4F (p.Val4Phe) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
V4F (p.Val4Phe) variant details
- p.Val4Phe
- rs1466614215
- ClinGen CA393838772
- cosmic curated COSV61927
- ClinVar RCV001930447
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.13
- MetaLR 0.05
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.45
- MutPred 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)