R15R (p.Arg15Arg) variant of DES (Desmin)
R15R (p.Arg15Arg) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R15R (p.Arg15Arg) variant details
- p.Arg15Arg
- gnomAD 2-219418507-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 15.50
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available