G20W (p.Gly20Trp) variant of JPH2 (Junctophilin-2)
G20W (p.Gly20Trp) 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 0.42 / 1. The record also includes population frequency data and structural context.
G20W (p.Gly20Trp) variant details
- p.Gly20Trp
- rs988100071
- ClinGen CA409095622
- ClinVar RCV003368359
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.28
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available