A17P (p.Ala17Pro) variant of BRCA1 (P38398)
A17P (p.Ala17Pro) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes experimental measurements, published literature, and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- rs1402064476
- ClinGen CA10602060
- ClinVar RCV001078130
- TOPMed rs1402064476
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.53
- MetaSVM 0.14
- CADD 24.80
- EVE 0.82
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -1.96
- 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)