R15H (p.Arg15His) variant of BLM (RecQ-like DNA helicase BLM)
R15H (p.Arg15His) 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; not provided; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- rs752755503
- ClinGen CA7738229
- ClinVar RCV000463869
- ClinVar RCV000779839
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.21
- CADD 25.40
- PolyPhen-2 0.83
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- 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)