L6V (p.Leu6Val) variant of BRCA1 (P38398)
L6V (p.Leu6Val) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 1; Fanconi anemia, complemen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes experimental measurements, published literature, and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- rs1315262605
- ClinGen CA10602128
- ClinVar RCV001077645
- ClinVar RCV005367716
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 1; Fanconi anemia, complemen
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.41
- MetaSVM -0.57
- CADD 12.45
- EVE 0.13
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 1; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)