A4A (p.Ala4Ala) variant of DES (Desmin)
A4A (p.Ala4Ala) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs762566962
- gnomAD 2-219418474-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 15.80
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available