A20V (p.Ala20Val) variant of CTNNB1 (Catenin beta-1)
A20V (p.Ala20Val) 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 CTNNB1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs757325337
- ClinGen CA2330856
- cosmic curated COSV62708
- ClinVar RCV002030176
- Uncertain significance
- CTNNB1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.09
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (CTNNB1-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available