S21F (p.Ser21Phe) variant of TMEM43 (Transmembrane protein 43)
S21F (p.Ser21Phe) 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; not provided; Arrhythmogenic right ventricular dysplas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- rs794729183
- ClinGen CA024726
- ClinVar RCV000183961
- ClinVar RCV003765144
- Uncertain significance
- Cardiovascular phenotype; not provided; Arrhythmogenic right ventricular dysplas
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.03
- CADD 17.20
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Arrhythmogenic right ven)
- 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)