L26L (p.Leu26Leu) variant of DES (Desmin)
L26L (p.Leu26Leu) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L26L (p.Leu26Leu) variant details
- p.Leu26Leu
- rs1252527107
- gnomAD 2-219418540-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 8.06
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available