I23T (p.Ile23Thr) variant of CNGA1 (P29973)
I23T (p.Ile23Thr) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- rs2475822893
- ClinGen CA356836569
- ClinVar RCV002637415
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.01
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available