A195V (p.Ala195Val) variant of PKP2 (Plakophilin-2)
A195V (p.Ala195Val) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A195V (p.Ala195Val) variant details
- p.Ala195Val
- rs1041783952
- ClinGen CA235266494
- cosmic curated COSV50730
- ClinVar RCV001184276
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.44
- MetaLR 0.64
- MetaSVM -0.39
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9)
- EBI: Variant of uncertain significance (in dbSNP:rs1041783952)
- UniProt: Uncertain significance (in dbSNP:rs1041783952)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular… (PMID 20031617)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)