A6V (p.Ala6Val) variant of CTNNA1 (Catenin alpha-1)
A6V (p.Ala6Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs2532170251
- ClinGen CA361477053
- ClinVar RCV003560814
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.12
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.58
- 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