G17A (p.Gly17Ala) variant of JPH2 (Junctophilin-2)
G17A (p.Gly17Ala) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- gnomAD rs1250267129
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.31
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available