S7F (p.Ser7Phe) variant of DSP (Desmoplakin)
S7F (p.Ser7Phe) 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; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- rs2533800246
- ClinGen CA362675469
- ClinVar RCV002832864
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.35
- MetaLR 0.36
- MetaSVM -0.19
- CADD 27.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)