P32H (p.Pro32His) variant of JPH2 (Junctophilin-2)
P32H (p.Pro32His) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P32H (p.Pro32His) variant details
- p.Pro32His
- ExAC rs758053818
- gnomAD rs758053818
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.53
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available