M1V (p.Met1Val) variant of TMEM43 (Transmembrane protein 43)
M1V (p.Met1Val) 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 Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, au. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs757083718
- ClinGen CA052143
- ClinVar RCV000622149
- ClinVar RCV002477353
- Uncertain significance
- Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, au
- Missense
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.32
- SIFT 0.02
- MutPred 0.64
- ClinVar: Uncertain significance (Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)