T22S (p.Thr22Ser) variant of CTNNA1 (Catenin alpha-1)
T22S (p.Thr22Ser) 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 0.56 / 1. The record also includes structural context.
T22S (p.Thr22Ser) variant details
- p.Thr22Ser
- rs1755162650
- ClinGen CA361477165
- ClinVar RCV001320550
- Ensembl rs1755162650
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 1.00
- MetaLR 0.40
- MetaSVM -0.20
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available