V4I (p.Val4Ile) variant of BLM (RecQ-like DNA helicase BLM)
V4I (p.Val4Ile) 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 Bloom syndrome. 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.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- rs1466614215
- ClinGen CA393838770
- ClinVar RCV001359717
- gnomAD rs1466614215
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.03
- AlphaMissense 0.13
- MetaLR 0.05
- MetaSVM -0.97
- CADD 11.30
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)