R86P (p.Arg86Pro) variant of JUP (Junction plakoglobin)
R86P (p.Arg86Pro) 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 0.71 / 1. The record also includes population frequency data and structural context.
R86P (p.Arg86Pro) variant details
- p.Arg86Pro
- cosmic curated COSV10883
- ExAC rs782341732
- TOPMed rs782341732
- gnomAD rs782341732
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.64
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available