G16R (p.Gly16Arg) variant of JPH2 (Junctophilin-2)
G16R (p.Gly16Arg) in JPH2 (Junctophilin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.95
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available