G108D (p.Gly108Asp) variant of JPH2 (Junctophilin-2)
G108D (p.Gly108Asp) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G108D (p.Gly108Asp) variant details
- p.Gly108Asp
- rs2145905825
- ClinGen CA409095043
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60696
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available