V65I (p.Val65Ile) variant of BLM (RecQ-like DNA helicase BLM)
V65I (p.Val65Ile) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- rs1895603124
- ClinGen CA393839665
- ClinVar RCV001223053
- Ensembl rs1895603124
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.16
- CADD 21.30
- PolyPhen-2 0.20
- SIFT 0.04
- ClinVar: Uncertain significance (Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)