A21T (p.Ala21Thr) variant of CTNNB1 (Catenin beta-1)
A21T (p.Ala21Thr) in CTNNB1 (Catenin beta-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 0.29 / 1. The record also includes structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs121913395
- ClinGen CA16602677
- NCI-TCGA Cosmic COSV6269
- cosmic curated COSV62699
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.22
- MetaLR 0.09
- MetaSVM -1.09
- PolyPhen-2 0.02
- SIFT 0.12
- EVE 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available