S30N (p.Ser30Asn) variant of TMEM43 (Transmembrane protein 43)
S30N (p.Ser30Asn) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Arrhythmogenic right ventricular dysplasia 5; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- rs570799464
- ClinGen CA056198
- ClinVar RCV001176815
- ClinVar RCV001518676
- Benign/Likely benign
- Arrhythmogenic right ventricular dysplasia 5; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.13
- CADD 22.50
- PolyPhen-2 0.44
- SIFT 0.04
- ClinVar: Benign/Likely benign (Arrhythmogenic right ventricular dysplasia 5; not provided; Card)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- 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)