K438N (p.Lys438Asn) variant of BARD1 (Q99728)
K438N (p.Lys438Asn) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
K438N (p.Lys438Asn) variant details
- p.Lys438Asn
- rs1559423185
- ClinGen CA350453156
- cosmic curated COSV10807
- ClinVar RCV000785391
- Likely pathogenic
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.87
- MetaLR 0.30
- MetaSVM -0.58
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.56
- ClinVar: Likely pathogenic (Familial cancer of breast)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)