S101R (p.Ser101Arg) variant of JPH2 (Junctophilin-2)
S101R (p.Ser101Arg) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypertrophic cardiomyopathy 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S101R (p.Ser101Arg) variant details
- p.Ser101Arg
- rs1600482909
- ClinGen CA409095096
- ClinVar RCV000023408
- UniProt VAR 065471
- Pathogenic
- Hypertrophic cardiomyopathy 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.42
- SIFT 0.04
- ClinVar: Pathogenic (Hypertrophic cardiomyopathy 17)
- EBI: Pathogenic (in CMH17)
- UniProt: Pathogenic (in CMH17)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. (PMID 17509612)
- Cited in: Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation… (PMID 24001019)