R19G (p.Arg19Gly) variant of DSP (Desmoplakin)
R19G (p.Arg19Gly) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- rs777340009
- ClinGen CA362675608
- ClinVar RCV004007854
- ExAC rs777340009
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.40
- MetaLR 0.34
- MetaSVM -0.24
- CADD 26.40
- PolyPhen-2 0.93
- SIFT 0.04
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available