Q1100P (p.Gln1100Pro) variant of CFTR (P13569)
Q1100P (p.Gln1100Pro) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q1100P (p.Gln1100Pro) variant details
- p.Gln1100Pro
- rs397508535
- ClinGen CA327135
- ClinVar RCV000577192
- ClinVar RCV001004493
- Pathogenic/Likely pathogenic
- CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.76
- MetaSVM 0.61
- CADD 24.00
- ClinVar: Pathogenic/Likely pathogenic (CFTR-related disorder; Cystic fibrosis; Congenital bilateral apl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)