I74M (p.Ile74Met) variant of JPH2 (Junctophilin-2)
I74M (p.Ile74Met) 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 0.36 / 1. The record also includes structural context.
I74M (p.Ile74Met) variant details
- p.Ile74Met
- rs2145906046
- ClinGen CA409095264
- ClinVar RCV003237692
- Ensembl rs2145906046
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.67
- PolyPhen-2 0.84
- SIFT 0.11
- MutPred 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available