R79S (p.Arg79Ser) variant of JPH2 (Junctophilin-2)
R79S (p.Arg79Ser) in JPH2 (Junctophilin-2) 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 0.40 / 1. The record also includes population frequency data and structural context.
R79S (p.Arg79Ser) variant details
- p.Arg79Ser
- rs753220253
- ClinGen CA9868908
- ClinVar RCV003187451
- ExAC rs753220253
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.11
- CADD 28.60
- PolyPhen-2 0.66
- SIFT 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 9e-07)
- Structural context available