N16S (p.Asn16Ser) variant of BRCA1 (P38398)
N16S (p.Asn16Ser) in BRCA1 (P38398) is a missense change. Clinical records from UniProt describe it as breast-ovarian cancer, familial, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes experimental measurements, published literature, and structural context.
N16S (p.Asn16Ser) variant details
- p.Asn16Ser
- rs2055729319
- ClinGen CA10602065
- ClinVar RCV001077682
- Ensembl rs2055729319
- Breast-ovarian cancer, familial, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.44
- MetaSVM -0.20
- CADD 19.39
- EVE 0.74
- UniProt: Breast-ovarian cancer, familial, susceptibility
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 Y2H: score -0.133
- 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)