H14Y (p.His14Tyr) variant of TMEM43 (Transmembrane protein 43)
H14Y (p.His14Tyr) 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; Cardiomyopathy; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H14Y (p.His14Tyr) variant details
- p.His14Tyr
- rs769902062
- ClinGen CA053471
- ClinVar RCV002578946
- ClinVar RCV006363184
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.13
- CADD 20.30
- PolyPhen-2 0.42
- SIFT 0.04
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)