M110V (p.Met110Val) variant of PKP2 (Plakophilin-2)
M110V (p.Met110Val) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
M110V (p.Met110Val) variant details
- p.Met110Val
- rs2541344445
- ClinGen CA384366356
- ClinVar RCV003533823
- ClinVar RCV004287268
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.10
- MetaLR 0.24
- MetaSVM -0.89
- CADD 0.91
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype)
- 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: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)