D64A (p.Asp64Ala) variant of BLM (RecQ-like DNA helicase BLM)
D64A (p.Asp64Ala) 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; not provided; Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D64A (p.Asp64Ala) variant details
- p.Asp64Ala
- rs140382474
- ClinGen CA10605706
- ClinVar RCV000360928
- ClinVar RCV000552084
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.20
- AlphaMissense 0.16
- MetaLR 0.17
- MetaSVM -0.63
- CADD 22.70
- PolyPhen-2 0.92
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Bloom syn)
- 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)