Q10E (p.Gln10Glu) variant of CNGA1 (P29973)
Q10E (p.Gln10Glu) in CNGA1 (P29973) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Q10E (p.Gln10Glu) variant details
- p.Gln10Glu
- ExAC rs772481945
- TOPMed rs772481945
- gnomAD rs772481945
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0951
- REVEL 0.05
- CADD 2.35
- PolyPhen-2 0.00
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available