G41A (p.Gly41Ala) variant of DES (Desmin)
G41A (p.Gly41Ala) in DES (Desmin) is a protein-truncating 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.
G41A (p.Gly41Ala) variant details
- p.Gly41Ala
- gnomAD 2-219418582-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available