D114E (p.Asp114Glu) variant of CNGA1 (P29973)
D114E (p.Asp114Glu) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D114E (p.Asp114Glu) variant details
- p.Asp114Glu
- ExAC rs748314222
- gnomAD rs748314222
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.04
- CADD 8.88
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available