S92R (p.Ser92Arg) variant of CDH2 (Cadherin-2)
S92R (p.Ser92Arg) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Arrhythmogenic right ventricular cardiomy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S92R (p.Ser92Arg) variant details
- p.Ser92Arg
- 1000Genomes rs150017015
- ESP rs150017015
- ExAC rs150017015
- TOPMed rs150017015
- Conflicting interpretations
- Inborn genetic diseases; not provided; Arrhythmogenic right ventricular cardiomy
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.23
- MetaLR 0.07
- MetaSVM -1.06
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Arrhythmogenic right vent)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available