I19T (p.Ile19Thr) variant of CNGA1 (P29973)
I19T (p.Ile19Thr) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- ExAC rs779778468
- TOPMed rs779778468
- gnomAD rs779778468
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.56
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available