R34T (p.Arg34Thr) variant of BRIP1 (Fanconi anemia group J protein)
R34T (p.Arg34Thr) 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 0.31 / 1. The record also includes published literature and structural context.
R34T (p.Arg34Thr) variant details
- p.Arg34Thr
- rs786201468
- ClinGen CA188988
- ClinVar RCV000163702
- Ensembl rs786201468
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.11
- MetaLR 0.14
- MetaSVM -0.90
- PolyPhen-2 0.07
- SIFT 0.34
- EVE 0.10
- 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)