K33T (p.Lys33Thr) variant of JPH2 (Junctophilin-2)
K33T (p.Lys33Thr) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K33T (p.Lys33Thr) variant details
- p.Lys33Thr
- 1000Genomes rs573848816
- ExAC rs573848816
- gnomAD rs573848816
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.36
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available