G53D (p.Gly53Asp) variant of CTNNA1 (Catenin alpha-1)
G53D (p.Gly53Asp) 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 0.58 / 1. The record also includes population frequency data and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- rs2532178267
- ClinGen CA361477376
- ClinVar RCV003568669
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.44
- CADD 27.00
- PolyPhen-2 0.68
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available