I15N (p.Ile15Asn) variant of BRCA1 (P38398)
I15N (p.Ile15Asn) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
I15N (p.Ile15Asn) variant details
- p.Ile15Asn
- rs80357316
- ClinGen CA10602072
- ClinVar RCV001076464
- Ensembl rs80357316
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.48
- MetaSVM -0.05
- CADD 23.90
- EVE 0.46
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.56
- 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)