C42Y (p.Cys42Tyr) variant of BRIP1 (Fanconi anemia group J protein)
C42Y (p.Cys42Tyr) 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 0.64 / 1. The record also includes published literature and structural context.
C42Y (p.Cys42Tyr) variant details
- p.Cys42Tyr
- rs1555618423
- ClinGen CA400485817
- ClinVar RCV000561259
- Ensembl rs1555618423
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.84
- MetaLR 0.64
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- 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)