L60I (p.Leu60Ile) variant of BLM (RecQ-like DNA helicase BLM)
L60I (p.Leu60Ile) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L60I (p.Leu60Ile) variant details
- p.Leu60Ile
- rs138542210
- ClinGen CA157427
- cosmic curated COSV10590
- ClinVar RCV000120241
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.10
- CADD 19.40
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- 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)