G17D (p.Gly17Asp) variant of JPH2 (Junctophilin-2)
G17D (p.Gly17Asp) in JPH2 (Junctophilin-2) is a missense change. 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.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD rs1250267129
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.39
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available