E69K (p.Glu69Lys) variant of BLM (RecQ-like DNA helicase BLM)
E69K (p.Glu69Lys) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- rs746195311
- ClinGen CA235943
- cosmic curated COSV61925
- ClinVar RCV000171242
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.04
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.01
- CADD 12.70
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- 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)