P9Q (p.Pro9Gln) variant of DSP (Desmoplakin)
P9Q (p.Pro9Gln) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- rs1303669220
- ClinGen CA362675494
- ClinVar RCV001183940
- ClinVar RCV002429822
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.19
- MetaLR 0.15
- MetaSVM -0.72
- CADD 23.80
- PolyPhen-2 0.18
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right v)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)