S53A (p.Ser53Ala) variant of BLM (RecQ-like DNA helicase BLM)
S53A (p.Ser53Ala) 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 0.35 / 1. The record also includes published literature and structural context.
S53A (p.Ser53Ala) variant details
- p.Ser53Ala
- rs1555418248
- ClinGen CA393839506
- ClinVar RCV002405788
- ClinVar RCV006470095
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.99
- PolyPhen-2 0.97
- SIFT 0.10
- MutPred 0.21
- 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)