D10E (p.Asp10Glu) variant of JPH2 (Junctophilin-2)
D10E (p.Asp10Glu) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- ExAC rs749155813
- TOPMed rs749155813
- gnomAD rs749155813
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.46
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.026)
- Structural context available