Y38H (p.Tyr38His) variant of JPH2 (Junctophilin-2)
Y38H (p.Tyr38His) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- Ensembl rs995578940
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.73
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available