T34R (p.Thr34Arg) variant of CTNNA1 (Catenin alpha-1)
T34R (p.Thr34Arg) in CTNNA1 (Catenin alpha-1) 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 0.29 / 1. The record also includes published literature and structural context.
T34R (p.Thr34Arg) variant details
- p.Thr34Arg
- rs2149652103
- ClinGen CA361477239
- ClinVar RCV002366904
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- AlphaMissense 0.57
- MetaLR 0.06
- MetaSVM -1.09
- PolyPhen-2 0.00
- SIFT 0.84
- EVE 0.12
- 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)