G103S (p.Gly103Ser) variant of JPH2 (Junctophilin-2)
G103S (p.Gly103Ser) 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. 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.
G103S (p.Gly103Ser) variant details
- p.Gly103Ser
- rs530754608
- ClinGen CA315352139
- ClinVar RCV001315398
- ClinVar RCV004034350
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.30
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.10
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available