G5R (p.Gly5Arg) variant of DSP (Desmoplakin)
G5R (p.Gly5Arg) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD rs1757989373
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.47
- MetaLR 0.42
- MetaSVM -0.05
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair an)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available