E117D (p.Glu117Asp) variant of CNGA1 (P29973)
E117D (p.Glu117Asp) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E117D (p.Glu117Asp) variant details
- p.Glu117Asp
- gnomAD rs1458761447
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.03
- CADD 17.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available