P24R (p.Pro24Arg) variant of DSP (Desmoplakin)
P24R (p.Pro24Arg) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- rs978383808
- ClinGen CA362675670
- ClinVar RCV001258155
- gnomAD rs978383808
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.22
- MetaLR 0.27
- MetaSVM -0.38
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- 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)