S102C (p.Ser102Cys) variant of JPH2 (Junctophilin-2)
S102C (p.Ser102Cys) 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 0.45 / 1. The record also includes structural context.
S102C (p.Ser102Cys) variant details
- p.Ser102Cys
- rs1378910974
- ClinGen CA409095086
- ClinVar RCV002444084
- Ensembl rs1378910974
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.33
- MetaLR 0.31
- MetaSVM -0.41
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.46
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available