R37R (p.Arg37Arg) variant of DES (Desmin)
R37R (p.Arg37Arg) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R37R (p.Arg37Arg) variant details
- p.Arg37Arg
- gnomAD 2-219418571-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 13.70
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available