Y16C (p.Tyr16Cys) variant of BRIP1 (Fanconi anemia group J protein)
Y16C (p.Tyr16Cys) in BRIP1 (Fanconi anemia group J protein) 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 0.28 / 1. The record also includes published literature and structural context.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- rs587781387
- ClinGen CA163990
- ClinVar RCV000129220
- Ensembl rs587781387
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.04
- PolyPhen-2 0.17
- SIFT 0.18
- EVE 0.13
- 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)