I15F (p.Ile15Phe) variant of BRCA1 (P38398)
I15F (p.Ile15Phe) 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 0.38 / 1. The record also includes experimental measurements, published literature, and structural context.
I15F (p.Ile15Phe) variant details
- p.Ile15Phe
- rs80357031
- ClinGen CA10602073
- ClinVar RCV001076463
- TOPMed rs80357031
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- ESM-1b 0.57
- AlphaMissense 0.42
- MetaLR 0.20
- MetaSVM -0.85
- CADD 15.48
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- 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)