S20T (p.Ser20Thr) variant of TMEM43 (Transmembrane protein 43)
S20T (p.Ser20Thr) 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 Cardiovascular phenotype; Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- rs1261978753
- ClinGen CA351534251
- ClinVar RCV001984323
- ClinVar RCV003234154
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0596
- REVEL 0.03
- CADD 5.76
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)