K83R (p.Lys83Arg) variant of JPH2 (Junctophilin-2)
K83R (p.Lys83Arg) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K83R (p.Lys83Arg) variant details
- p.Lys83Arg
- ESP rs370935576
- ExAC rs370935576
- TOPMed rs370935576
- gnomAD rs370935576
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.05
- CADD 22.70
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available