V17I (p.Val17Ile) variant of TMEM43 (Transmembrane protein 43)
V17I (p.Val17Ile) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- rs370973153
- ClinGen CA053974
- ClinVar RCV000697992
- ClinVar RCV002334339
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0468
- REVEL 0.01
- CADD 1.75
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)