D125N (p.Asp125Asn) variant of JPH2 (Junctophilin-2)
D125N (p.Asp125Asn) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D125N (p.Asp125Asn) variant details
- p.Asp125Asn
- rs372627882
- ClinGen CA315352109
- ClinVar RCV002471677
- ClinVar RCV003164741
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.36
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 17)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available