N13K (p.Asn13Lys) variant of BRCA1 (P38398)
N13K (p.Asn13Lys) 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 0.47 / 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
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.55
- CADD 24.80
- PolyPhen-2 0.28
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.226
- 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)