T62A (p.Thr62Ala) variant of TMEM43 (Transmembrane protein 43)
T62A (p.Thr62Ala) 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 Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5; Cardiomy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T62A (p.Thr62Ala) variant details
- p.Thr62Ala
- rs1320848788
- ClinGen CA351534523
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV003533509
- Conflicting interpretations
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5; Cardiomy
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.01
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)