G17V (p.Gly17Val) variant of JPH2 (Junctophilin-2)
G17V (p.Gly17Val) 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 0.60 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- rs1250267129
- ClinGen CA409095642
- ClinVar RCV002335992
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.47
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available