R10R (p.Arg10Arg) variant of DES (Desmin)
R10R (p.Arg10Arg) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R10R (p.Arg10Arg) variant details
- p.Arg10Arg
- rs886042179
- gnomAD 2-219418492-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 15.00
- Population evidence available
- Structural context available
- Literature evidence available