A21A (p.Ala21Ala) variant of DES (Desmin)
A21A (p.Ala21Ala) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A21A (p.Ala21Ala) variant details
- p.Ala21Ala
- rs201458068
- gnomAD 2-219418525-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 9.51
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available