P9S (p.Pro9Ser) variant of DSP (Desmoplakin)
P9S (p.Pro9Ser) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- ExAC rs763115916
- TOPMed rs763115916
- gnomAD rs763115916
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -0.97
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available