A2P (p.Ala2Pro) variant of TMEM43 (Transmembrane protein 43)
A2P (p.Ala2Pro) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- rs1695000807
- ClinGen CA351533963
- ClinVar RCV001345031
- Ensembl rs1695000807
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.11
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.30
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)