S299R (p.Ser299Arg) variant of DSP (Desmoplakin)
S299R (p.Ser299Arg) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with wooly hair and kera. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S299R (p.Ser299Arg) variant details
- p.Ser299Arg
- rs121912992
- ClinGen CA362674567
- ClinVar RCV003813313
- ClinVar RCV005567654
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with wooly hair and kera
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with woo)
- EBI: Pathogenic (in ARVD8)
- UniProt: Pathogenic (in ARVD8)
- Population evidence available
- Structural context available
- Cited in: Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular… (PMID 12373648)
- Cited in: Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin… (PMID 15941723)