E9del (p.Glu9del) variant of GNAT1 (P11488)
E9del (p.Glu9del) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E9del (p.Glu9del) variant details
- rs398124522
- gnomAD 3-50191746-TGAG-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 21.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available