W18R (p.Trp18Arg) variant of JPH2 (Junctophilin-2)
W18R (p.Trp18Arg) 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 0.76 / 1. The record also includes population frequency data and structural context.
W18R (p.Trp18Arg) variant details
- p.Trp18Arg
- rs1488866517
- ClinGen CA409095639
- ClinVar RCV003306451
- gnomAD rs1488866517
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available