V1240G (p.Val1240Gly) variant of CFTR (P13569)
V1240G (p.Val1240Gly) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
V1240G (p.Val1240Gly) variant details
- p.Val1240Gly
- rs397508598
- ClinGen CA327262
- ClinVar RCV000577207
- gnomAD rs397508598
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.93
- MetaSVM 1.08
- CADD 32.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.13)
- 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)