N16H (p.Asn16His) variant of BRCA1 (P38398)
N16H (p.Asn16His) 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 0.57 / 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
- Breast-ovarian cancer, familial, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- AlphaMissense 0.14
- MetaLR 0.61
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.16
- EVE 0.73
- UniProt: Breast-ovarian cancer, familial, susceptibility
- 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)