G36V (p.Gly36Val) variant of DSP (Desmoplakin)
G36V (p.Gly36Val) 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; Arrhythmogenic ri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G36V (p.Gly36Val) variant details
- p.Gly36Val
- ExAC rs778506459
- TOPMed rs778506459
- gnomAD rs778506459
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.34
- MetaLR 0.16
- MetaSVM -0.94
- CADD 20.90
- PolyPhen-2 0.39
- SIFT 0.08
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available