N16K (p.Asn16Lys) variant of BRCA1 (P38398)
N16K (p.Asn16Lys) 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 0.54 / 1. The record also includes experimental measurements, published literature, and structural context.
N16K (p.Asn16Lys) variant details
- p.Asn16Lys
- rs1555600963
- ClinGen CA10602062
- ClinVar RCV001077686
- Ensembl rs1555600963
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.30
- MetaLR 0.44
- MetaSVM -0.11
- PolyPhen-2 0.92
- SIFT 0.49
- EVE 0.78
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.559
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)