G70A (p.Gly70Ala) variant of JUP (Junction plakoglobin)
G70A (p.Gly70Ala) in JUP (Junction plakoglobin) 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 0.27 / 1. The record also includes population frequency data and structural context.
G70A (p.Gly70Ala) variant details
- p.Gly70Ala
- rs794729030
- ClinGen CA308446
- ClinVar RCV000183482
- Ensembl rs794729030
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.05
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available