N43S (p.Asn43Ser) variant of JPH2 (Junctophilin-2)
N43S (p.Asn43Ser) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- rs138992849
- ClinGen CA335208
- ClinVar RCV000525610
- ClinVar RCV000620653
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.14
- CADD 23.10
- PolyPhen-2 0.84
- SIFT 0.79
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available