A46T (p.Ala46Thr) variant of CFTR (P13569)
A46T (p.Ala46Thr) 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 0.51 / 1. The record also includes published literature and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs1584774381
- ClinGen CA368987369
- ClinVar RCV002319140
- Ensembl rs1584774381
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- ESM-1b 0.00
- AlphaMissense 0.59
- MetaLR 0.73
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.35
- ClinVar: Uncertain significance (Cystic fibrosis)
- 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)