H16D (p.His16Asp) variant of BLM (RecQ-like DNA helicase BLM)
H16D (p.His16Asp) 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 0.38 / 1. The record also includes published literature and structural context.
H16D (p.His16Asp) variant details
- p.His16Asp
- rs1895533888
- ClinGen CA393838887
- ClinVar RCV001235189
- Ensembl rs1895533888
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- AlphaMissense 0.82
- MetaLR 0.29
- MetaSVM -0.44
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.14
- 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)