E31K (p.Glu31Lys) variant of TMEM43 (Transmembrane protein 43)
E31K (p.Glu31Lys) 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; Emery-Dreifuss muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs754536393
- ClinGen CA056258
- ClinVar RCV000244386
- ClinVar RCV000707015
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss mus)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00034)
- 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)