A38R (p.Ala38Arg) variant of DES (Desmin)
A38R (p.Ala38Arg) in DES (Desmin) is a protein-truncating 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.
A38R (p.Ala38Arg) variant details
- p.Ala38Arg
- rs2125165857
- gnomAD 2-219418571-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 23.90
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available