A1067G (p.Ala1067Gly) variant of CFTR (P13569)
A1067G (p.Ala1067Gly) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A1067G (p.Ala1067Gly) variant details
- p.Ala1067Gly
- rs1800114
- ClinGen CA327093
- ClinVar RCV000665908
- ESP rs1800114
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.51
- MetaSVM 0.00
- CADD 26.20
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Likely pathogenic (in dbSNP:rs1800114)
- UniProt: Likely pathogenic (in dbSNP:rs1800114)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)