S99N (p.Ser99Asn) variant of JPH2 (Junctophilin-2)
S99N (p.Ser99Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S99N (p.Ser99Asn) variant details
- p.Ser99Asn
- rs2515764096
- ClinGen CA409095105
- ClinVar RCV003587500
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.12
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available