K20N (p.Lys20Asn) variant of BRCA1 (P38398)
K20N (p.Lys20Asn) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- rs202168814
- ClinGen CA003760
- ClinVar RCV000159933
- ClinVar RCV000215880
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- ESM-1b 1.00
- AlphaMissense 0.81
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -2.68
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)