R51L (p.Arg51Leu) variant of JUP (Junction plakoglobin)
R51L (p.Arg51Leu) 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 specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- rs571707598
- ClinGen CA399506777
- ClinVar RCV003181553
- ClinVar RCV006269817
- Uncertain significance
- not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.19
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available