V93A (p.Val93Ala) variant of JUP (Junction plakoglobin)
V93A (p.Val93Ala) in JUP (Junction plakoglobin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V93A (p.Val93Ala) variant details
- p.Val93Ala
- TOPMed rs1916292032
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.10
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.85
- CADD 21.10
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available