R37C (p.Arg37Cys) variant of DES (Desmin)
R37C (p.Arg37Cys) in DES (Desmin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- gnomAD 2-219418558-G-GCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 28.70
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available