N13K (p.Asn13Lys) variant of BRCA1 (P38398)
N13K (p.Asn13Lys) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N13K (p.Asn13Lys) variant details
- p.Asn13Lys
- rs2055733269
- ClinGen CA10602082
- ClinVar RCV001078123
- ClinVar RCV004601371
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.46
- MetaSVM -0.12
- CADD 20.90
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -3.05
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)