D26L (p.Asp26Leu) variant of GNAT1 (P11488)
D26L (p.Asp26Leu) in GNAT1 (P11488) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D26L (p.Asp26Leu) variant details
- p.Asp26Leu
- gnomAD 3-50191799-AGGAT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 29.30
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available