P5S (p.Pro5Ser) variant of BLM (RecQ-like DNA helicase BLM)
P5S (p.Pro5Ser) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs760982604
- ClinGen CA7738224
- ClinVar RCV000699588
- ExAC rs760982604
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.74
- MetaLR 0.72
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Bloom 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)