R79P (p.Arg79Pro) variant of JPH2 (Junctophilin-2)
R79P (p.Arg79Pro) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R79P (p.Arg79Pro) variant details
- p.Arg79Pro
- rs767968907
- ClinGen CA9868907
- ClinVar RCV003480364
- ClinVar RCV006478675
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.18
- CADD 27.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available