I83T (p.Ile83Thr) variant of CNGA1 (P29973)
I83T (p.Ile83Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
I83T (p.Ile83Thr) variant details
- p.Ile83Thr
- rs370983023
- ClinGen CA2911339
- ClinVar RCV001203254
- ESP rs370983023
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.03
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available