L41F (p.Leu41Phe) variant of BARD1 (Q99728)
L41F (p.Leu41Phe) 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 provided; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- rs751665426
- ClinGen CA192544
- ClinVar RCV000165112
- ClinVar RCV000236804
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.33
- CADD 24.30
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)