D64H (p.Asp64His) variant of BLM (RecQ-like DNA helicase BLM)
D64H (p.Asp64His) 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 0.44 / 1. The record also includes published literature and structural context.
D64H (p.Asp64His) variant details
- p.Asp64His
- rs1895602796
- ClinGen CA393839653
- cosmic curated COSV61921
- ClinVar RCV001205505
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.27
- MetaLR 0.30
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.25
- 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)