N16H (p.Asn16His) variant of BRCA1 (P38398)
N16H (p.Asn16His) 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 0.52 / 1. The record also includes experimental measurements, published literature, and structural context.
N16H (p.Asn16His) variant details
- p.Asn16His
- rs2055729884
- ClinGen CA10602069
- cosmic curated COSV10963
- ClinVar RCV001076469
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- ESM-1b 0.65
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.28
- CADD 20.10
- EVE 0.43
- 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)