Q2P (p.Gln2Pro) variant of CFTR (P13569)
Q2P (p.Gln2Pro) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q2P (p.Gln2Pro) variant details
- p.Gln2Pro
- rs1797976959
- ClinGen CA368981135
- ClinVar RCV001269232
- ClinVar RCV001830073
- Uncertain significance
- Cystic fibrosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.78
- MetaSVM 0.50
- CADD 26.90
- ClinVar: Uncertain significance (Cystic fibrosis; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- 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)