N12H (p.Asn12His) variant of DSP (Desmoplakin)
N12H (p.Asn12His) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
N12H (p.Asn12His) variant details
- p.Asn12His
- rs1757990554
- ClinGen CA362675529
- cosmic curated COSV65791
- ClinVar RCV001176011
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.18
- MetaLR 0.32
- MetaSVM -0.42
- PolyPhen-2 0.99
- SIFT 0.21
- MutPred 0.18
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)