I37T (p.Ile37Thr) variant of CFTR (P13569)
I37T (p.Ile37Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I37T (p.Ile37Thr) variant details
- p.Ile37Thr
- rs2484968262
- ClinGen CA368987191
- ClinVar RCV002437373
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.80
- ESM-1b 0.31
- AlphaMissense 0.34
- MetaLR 0.85
- MetaSVM 0.83
- CADD 21.90
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- 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)