S2N (p.Ser2Asn) variant of JPH2 (Junctophilin-2)
S2N (p.Ser2Asn) 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 0.36 / 1. The record also includes population frequency data and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- rs771997292
- ClinGen CA409095744
- ClinVar RCV002895276
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.09
- CADD 23.80
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available