G7D (p.Gly7Asp) variant of CTNNA1 (Catenin alpha-1)
G7D (p.Gly7Asp) 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.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- rs1755158341
- ClinGen CA361477059
- ClinVar RCV001326720
- Ensembl rs1755158341
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.20
- CADD 21.20
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available