V30A (p.Val30Ala) variant of DSP (Desmoplakin)
V30A (p.Val30Ala) 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 0.32 / 1. The record also includes published literature and structural context.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- rs1757994526
- ClinGen CA362675753
- ClinVar RCV001179238
- Ensembl rs1757994526
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.30
- MutPred 0.21
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance (in ARVD8)
- UniProt: Uncertain significance (in ARVD8)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)