G20G (p.Gly20Gly) variant of DES (Desmin)
G20G (p.Gly20Gly) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G20G (p.Gly20Gly) variant details
- p.Gly20Gly
- rs1058253
- gnomAD 2-219418522-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.57
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available