V317G (p.Val317Gly) variant of CFTR (P13569)
V317G (p.Val317Gly) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V317G (p.Val317Gly) variant details
- p.Val317Gly
- rs1204521684
- ClinGen CA368978446
- ClinVar RCV002374187
- TOPMed rs1204521684
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.81
- MetaSVM 0.78
- CADD 27.70
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:GIH population (allele frequency 0.02)
- 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)