K29R (p.Lys29Arg) variant of BLM (RecQ-like DNA helicase BLM)
K29R (p.Lys29Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- rs1895535585
- ClinGen CA393838999
- ClinVar RCV001279093
- ClinVar RCV004951441
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.05
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)