T47I (p.Thr47Ile) variant of CNGA1 (P29973)
T47I (p.Thr47Ile) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- Ensembl rs2110157901
- Missense
- Variant Prioritization Score for Impact Estimate 0.0445
- REVEL 0.02
- CADD 1.08
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available