G19A (p.Gly19Ala) variant of DES (Desmin)
G19A (p.Gly19Ala) in DES (Desmin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- gnomAD 2-219418517-GGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 29.90
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available