Y19S (p.Tyr19Ser) variant of BRIP1 (Fanconi anemia group J protein)
Y19S (p.Tyr19Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Y19S (p.Tyr19Ser) variant details
- p.Tyr19Ser
- rs876660880
- ClinGen CA400485979
- ClinVar RCV001524361
- TOPMed rs876660880
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.34
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)