A174S (p.Ala174Ser) variant of PKP2 (Plakophilin-2)
A174S (p.Ala174Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
A174S (p.Ala174Ser) variant details
- p.Ala174Ser
- rs2137949857
- ClinGen CA384364754
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.84
- PolyPhen-2 0.08
- SIFT 0.03
- EVE 0.09
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)