N13I (p.Asn13Ile) variant of BRCA1 (P38398)
N13I (p.Asn13Ile) 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 0.62 / 1. The record also includes experimental measurements, published literature, and structural context.
N13I (p.Asn13Ile) variant details
- p.Asn13Ile
- rs2055733986
- ClinGen CA10602083
- ClinVar RCV001078122
- Ensembl rs2055733986
- Breast-ovarian cancer, familial, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.49
- MetaSVM -0.14
- CADD 21.30
- EVE 0.83
- UniProt: Breast-ovarian cancer, familial, susceptibility
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -3.05
- 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)