A65T (p.Ala65Thr) variant of TMEM43 (Transmembrane protein 43)
A65T (p.Ala65Thr) 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; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- rs1695084511
- ClinGen CA351534540
- ClinVar RCV002012262
- ClinVar RCV006367840
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.04
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -0.99
- CADD 21.90
- PolyPhen-2 0.19
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)