G6A (p.Gly6Ala) variant of DSP (Desmoplakin)
G6A (p.Gly6Ala) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- rs1339636876
- ClinGen CA362675450
- ClinVar RCV002019453
- ClinVar RCV003235653
- Uncertain significance
- not provided; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arr
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.39
- MetaLR 0.36
- MetaSVM -0.18
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Arrhythmogenic cardiomyopathy with wooly hair and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)