F8S (p.Phe8Ser) variant of JPH2 (Junctophilin-2)
F8S (p.Phe8Ser) 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; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
F8S (p.Phe8Ser) variant details
- p.Phe8Ser
- rs2072848592
- ClinGen CA409095704
- ClinVar RCV001763626
- ClinVar RCV003163878
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.50
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype; not provi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available