L41V (p.Leu41Val) variant of BARD1 (Q99728)
L41V (p.Leu41Val) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not specified; Familial cancer of breas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- rs751665426
- ClinGen CA2090514
- ClinVar RCV000214427
- ClinVar RCV000230109
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Familial cancer of breas
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.28
- CADD 22.50
- PolyPhen-2 0.65
- SIFT 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)