I23T (p.Ile23Thr) variant of CFTR (P13569)
I23T (p.Ile23Thr) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- rs2484968064
- ClinGen CA368986883
- ClinVar RCV002378061
- ClinVar RCV005239395
- Uncertain significance
- Cystic fibrosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- ESM-1b 0.39
- AlphaMissense 0.78
- ClinVar: Uncertain significance (Cystic fibrosis; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)