A55V (p.Ala55Val) variant of BLM (RecQ-like DNA helicase BLM)
A55V (p.Ala55Val) 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 0.34 / 1. The record also includes published literature and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- rs1895601835
- ClinGen CA393839529
- ClinVar RCV001072029
- Ensembl rs1895601835
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.10
- MetaLR 0.10
- MetaSVM -0.97
- PolyPhen-2 0.61
- SIFT 0.01
- MutPred 0.15
- ClinVar: Uncertain significance (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)