N16D (p.Asn16Asp) variant of BRCA1 (P38398)
N16D (p.Asn16Asp) 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 0.56 / 1. The record also includes experimental measurements, published literature, and structural context.
N16D (p.Asn16Asp) variant details
- p.Asn16Asp
- rs2055729884
- ClinGen CA10602068
- ClinVar RCV001077679
- ClinVar RCV005520433
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- ESM-1b 0.93
- AlphaMissense 0.15
- MetaLR 0.51
- MetaSVM -0.28
- CADD 20.10
- EVE 0.43
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)