A36V (p.Ala36Val) variant of PKP2 (Plakophilin-2)
A36V (p.Ala36Val) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- rs2541384684
- ClinGen CA384371370
- ClinVar RCV003120481
- ClinVar RCV003618048
- Uncertain significance
- not provided; Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.24
- MetaLR 0.42
- MetaSVM -0.21
- CADD 24.30
- PolyPhen-2 0.70
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Arrhythmogenic right ventricular dysplasia 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)