G67V (p.Gly67Val) variant of TMEM43 (Transmembrane protein 43)
G67V (p.Gly67Val) 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 Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Auditory neuropath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G67V (p.Gly67Val) variant details
- p.Gly67Val
- rs766792876
- ClinGen CA69728987
- ClinVar RCV001361222
- ClinVar RCV002420788
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Auditory neuropath
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.52
- MetaLR 0.30
- MetaSVM -0.54
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Au)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)