T34I (p.Thr34Ile) variant of CTNNA1 (Catenin alpha-1)
T34I (p.Thr34Ile) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T34I (p.Thr34Ile) variant details
- p.Thr34Ile
- rs2149652103
- ClinGen CA361477237
- ClinVar RCV001973334
- Ensembl rs2149652103
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.22
- AlphaMissense 0.57
- MetaLR 0.06
- MetaSVM -1.09
- CADD 20.20
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available