G35G (p.Gly35Gly) variant of DSP (Desmoplakin)
G35G (p.Gly35Gly) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G35G (p.Gly35Gly) variant details
- p.Gly35Gly
- rs77445784
- gnomAD 6-7542020-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 10.80
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)
- Cited in: Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict… (PMID 21606396)