N12S (p.Asn12Ser) variant of DSP (Desmoplakin)
N12S (p.Asn12Ser) 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; Arrhythmogenic cardiomyopathy with wooly hair and kera. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N12S (p.Asn12Ser) variant details
- p.Asn12Ser
- rs1239489755
- ClinGen CA362675539
- ClinVar RCV000819322
- ClinVar RCV002453876
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with wooly hair and kera
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- MetaLR 0.31
- MetaSVM -0.35
- CADD 25.80
- PolyPhen-2 0.90
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with woo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-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)