W18G (p.Trp18Gly) variant of JPH2 (Junctophilin-2)
W18G (p.Trp18Gly) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
W18G (p.Trp18Gly) variant details
- p.Trp18Gly
- gnomAD rs1488866517
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.80
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.029)
- Structural context available