E19Q (p.Glu19Gln) variant of CTNNA1 (Catenin alpha-1)
E19Q (p.Glu19Gln) 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 0.47 / 1. The record also includes population frequency data and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- rs2149651919
- ClinGen CA361477138
- ClinVar RCV001866485
- Ensembl rs2149651919
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.25
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.24
- 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