Q74L (p.Gln74Leu) variant of CNGA1 (P29973)
Q74L (p.Gln74Leu) in CNGA1 (P29973) 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 and structural context.
Q74L (p.Gln74Leu) variant details
- p.Gln74Leu
- ExAC rs771980222
- gnomAD rs771980222
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.14
- CADD 17.90
- PolyPhen-2 0.64
- SIFT 0.67
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available