A113S (p.Ala113Ser) variant of PKP2 (Plakophilin-2)
A113S (p.Ala113Ser) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A113S (p.Ala113Ser) variant details
- p.Ala113Ser
- rs1013290479
- ClinGen CA384365516
- ClinVar RCV002790263
- ClinVar RCV004654028
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.07
- MetaLR 0.24
- MetaSVM -0.93
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)