Q39P (p.Gln39Pro) variant of CFTR (P13569)
Q39P (p.Gln39Pro) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q39P (p.Gln39Pro) variant details
- p.Gln39Pro
- rs996012692
- ClinGen CA164963691
- ClinVar RCV002913957
- Ensembl rs996012692
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.55
- MetaSVM -0.04
- CADD 23.80
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA 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)