A110S (p.Ala110Ser) variant of JUP (Junction plakoglobin)
A110S (p.Ala110Ser) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A110S (p.Ala110Ser) variant details
- p.Ala110Ser
- rs1916275770
- ClinGen CA399505428
- ClinVar RCV003301371
- TOPMed rs1916275770
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.07
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.03
- CADD 6.08
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available