S101N (p.Ser101Asn) variant of JPH2 (Junctophilin-2)
S101N (p.Ser101Asn) 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 0.29 / 1. The record also includes population frequency data and structural context.
S101N (p.Ser101Asn) variant details
- p.Ser101Asn
- rs1281048375
- ClinGen CA409095092
- ClinVar RCV002010505
- ClinVar RCV002441182
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.06
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in CMH17)
- UniProt: Uncertain significance (in CMH17)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available