I74V (p.Ile74Val) variant of JPH2 (Junctophilin-2)
I74V (p.Ile74Val) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I74V (p.Ile74Val) variant details
- p.Ile74Val
- rs1197530646
- ClinGen CA409095269
- ClinVar RCV001045760
- ClinVar RCV005582501
- Conflicting interpretations
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.13
- CADD 16.40
- PolyPhen-2 0.10
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available