G127E (p.Gly127Glu) variant of JPH2 (Junctophilin-2)
G127E (p.Gly127Glu) 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 0.55 / 1. The record also includes population frequency data and structural context.
G127E (p.Gly127Glu) variant details
- p.Gly127Glu
- NCI-TCGA Cosmic COSV6590
- TOPMed rs2072602103
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.40
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available