K77E (p.Lys77Glu) variant of JPH2 (Junctophilin-2)
K77E (p.Lys77Glu) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K77E (p.Lys77Glu) variant details
- p.Lys77Glu
- rs2072844538
- ClinGen CA409095251
- ClinVar RCV001341815
- Ensembl rs2072844538
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.36
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available