A17V (p.Ala17Val) variant of BRCA1 (P38398)
A17V (p.Ala17Val) 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 0.56 / 1. The record also includes experimental measurements, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs1412871417
- ClinGen CA10602056
- ClinVar RCV001078134
- TOPMed rs1412871417
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.42
- MetaLR 0.53
- MetaSVM -0.06
- PolyPhen-2 0.98
- SIFT 0.27
- EVE 0.73
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.598
- 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)