L40V (p.Leu40Val) variant of TMEM43 (Transmembrane protein 43)
L40V (p.Leu40Val) 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; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- rs755682525
- ClinGen CA051438
- ClinVar RCV000685107
- ClinVar RCV001191639
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.09
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.82
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)