A3V (p.Ala3Val) variant of CTNNA1 (Catenin alpha-1)
A3V (p.Ala3Val) 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 0.35 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs1410904142
- ClinGen CA361477034
- ClinVar RCV002017205
- TOPMed rs1410904142
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available