W34L (p.Trp34Leu) variant of BARD1 (Q99728)
W34L (p.Trp34Leu) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
W34L (p.Trp34Leu) variant details
- p.Trp34Leu
- rs876659387
- ClinGen CA64810304
- cosmic curated COSV10609
- ClinVar RCV003607938
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.54
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)