I5T (p.Ile5Thr) variant of CNGA1 (P29973)
I5T (p.Ile5Thr) 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 0.14 / 1. The record also includes population frequency data and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- rs1259820486
- ClinGen CA356836782
- ClinVar RCV001231715
- gnomAD rs1259820486
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.05
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available