Y118C (p.Tyr118Cys) variant of JPH2 (Junctophilin-2)
Y118C (p.Tyr118Cys) 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 0.60 / 1. The record also includes population frequency data and structural context.
Y118C (p.Tyr118Cys) variant details
- p.Tyr118Cys
- ExAC rs756893070
- gnomAD rs756893070
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.54
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available