Q3Q (p.Gln3Gln) variant of DES (Desmin)
Q3Q (p.Gln3Gln) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q3Q (p.Gln3Gln) variant details
- p.Gln3Gln
- rs1262196309
- gnomAD 2-219418471-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available