I1269M (p.Ile1269Met) variant of CFTR (P13569)
I1269M (p.Ile1269Met) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I1269M (p.Ile1269Met) variant details
- p.Ile1269Met
- rs1800129
- ClinGen CA4451550
- ClinVar RCV000820340
- ClinVar RCV001830801
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.86
- MetaSVM 0.60
- CADD 17.10
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Likely benign
- UniProt: Likely benign
- 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)