L6R (p.Leu6Arg) variant of BRCA1 (P38398)
L6R (p.Leu6Arg) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; BRCA1-related cancer predisposition; He. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes experimental measurements, published literature, and structural context.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- rs2055741739
- ClinGen CA10602124
- ClinVar RCV001078107
- ClinVar RCV001593258
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; BRCA1-related cancer predisposition; He
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.35
- MetaSVM -0.69
- CADD 16.77
- EVE 0.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; BRCA1-related cancer pr)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -0.316
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)