K68Q (p.Lys68Gln) variant of JPH2 (Junctophilin-2)
K68Q (p.Lys68Gln) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K68Q (p.Lys68Gln) variant details
- p.Lys68Gln
- rs758036911
- ClinGen CA9868912
- ClinVar RCV002419748
- ExAC rs758036911
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.35
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available