G6D (p.Gly6Asp) variant of DSP (Desmoplakin)
G6D (p.Gly6Asp) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- rs1339636876
- ClinGen CA362675446
- ClinVar RCV001186715
- ClinVar RCV004008626
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.42
- MetaLR 0.42
- MetaSVM -0.06
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair an)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)