A38A (p.Ala38Ala) variant of DES (Desmin)
A38A (p.Ala38Ala) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- gnomAD 2-219418576-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 10.50
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available