D20N (p.Asp20Asn) variant of SGCA (Alpha-sarcoglycan)
D20N (p.Asp20Asn) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Arrhythmogenic right ventricular cardiomyopathy; Autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D20N (p.Asp20Asn) variant details
- p.Asp20Asn
- rs759284746
- ClinGen CA8643685
- ClinVar RCV000528429
- ClinVar RCV000852721
- Conflicting interpretations
- Inborn genetic diseases; Arrhythmogenic right ventricular cardiomyopathy; Autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.20
- CADD 9.05
- PolyPhen-2 0.06
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Arrhythmogenic right ventricular cardio)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)