S100L (p.Ser100Leu) variant of JPH2 (Junctophilin-2)
S100L (p.Ser100Leu) 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; Cardiomyopathy, dilated, 2E; Hypertrophic cardiomyopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S100L (p.Ser100Leu) variant details
- p.Ser100Leu
- rs145401873
- ClinGen CA315352144
- ClinVar RCV000497753
- ClinVar RCV001865571
- Conflicting interpretations
- Cardiovascular phenotype; Cardiomyopathy, dilated, 2E; Hypertrophic cardiomyopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.07
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiomyopathy, dilated, 2E; Hypertrop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available