R13K (p.Arg13Lys) variant of BARD1 (Q99728)
R13K (p.Arg13Lys) 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; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- rs587781713
- ClinGen CA165296
- ClinVar RCV000129890
- ClinVar RCV000705395
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.14
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- 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)