P30A (p.Pro30Ala) variant of BLM (RecQ-like DNA helicase BLM)
P30A (p.Pro30Ala) 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 0.40 / 1. The record also includes published literature and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- rs2151145103
- ClinGen CA393839007
- ClinVar RCV002376050
- ClinVar RCV006559183
- Uncertain significance
- Bloom syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.10
- MetaLR 0.27
- MetaSVM -0.57
- PolyPhen-2 0.99
- SIFT 0.11
- MutPred 0.21
- ClinVar: Uncertain significance (Bloom syndrome; Hereditary cancer-predisposing 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)