R5H (p.Arg5His) variant of JPH2 (Junctophilin-2)
R5H (p.Arg5His) 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 0.55 / 1. The record also includes structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- rs1569226748
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60696
- Ensembl rs1569226748
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- AlphaMissense 0.91
- MetaLR 0.53
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.38
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available