G108S (p.Gly108Ser) variant of JPH2 (Junctophilin-2)
G108S (p.Gly108Ser) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G108S (p.Gly108Ser) variant details
- p.Gly108Ser
- gnomAD rs1336822960
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available