G103C (p.Gly103Cys) variant of JPH2 (Junctophilin-2)
G103C (p.Gly103Cys) 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 0.62 / 1. The record also includes population frequency data and structural context.
G103C (p.Gly103Cys) variant details
- p.Gly103Cys
- rs530754608
- ClinGen CA409095079
- cosmic curated COSV10065
- ClinVar RCV003306455
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.49
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- 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