A13S (p.Ala13Ser) variant of JPH2 (Junctophilin-2)
A13S (p.Ala13Ser) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- TOPMed rs1398543222
- gnomAD rs1398543222
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.21
- CADD 22.30
- PolyPhen-2 0.31
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available