A55E (p.Ala55Glu) variant of BLM (RecQ-like DNA helicase BLM)
A55E (p.Ala55Glu) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A55E (p.Ala55Glu) variant details
- p.Ala55Glu
- rs1895601835
- ClinGen CA393839526
- ClinVar RCV004516737
- ClinVar RCV005065191
- Uncertain significance
- Bloom syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.11
- AlphaMissense 0.10
- MetaLR 0.10
- MetaSVM -0.97
- CADD 13.20
- PolyPhen-2 0.61
- ClinVar: Uncertain significance (Bloom syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)