V30M (p.Val30Met) variant of DSP (Desmoplakin)
V30M (p.Val30Met) in DSP (Desmoplakin) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in ARVD8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs121912998
- ClinGen CA004702
- ClinVar RCV000018340
- ClinVar RCV000029685
- Benign
- in ARVD8
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.39
- MetaLR 0.03
- MetaSVM -1.13
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in ARVD8)
- UniProt: Benign (in ARVD8)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID 16917092)
- Cited in: Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular… (PMID 29396286)