D43E (p.Asp43Glu) variant of CNGA1 (P29973)
D43E (p.Asp43Glu) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- TOPMed rs1739735649
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.05
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available