I32V (p.Ile32Val) variant of BRIP1 (Fanconi anemia group J protein)
I32V (p.Ile32Val) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- rs776386693
- ClinGen CA400485883
- ClinVar RCV000580127
- ExAC rs776386693
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.72
- MetaLR 0.64
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)