V317M (p.Val317Met) variant of CFTR (P13569)
V317M (p.Val317Met) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V317M (p.Val317Met) variant details
- p.Val317Met
- rs2485026627
- ClinGen CA368978429
- ClinVar RCV002374104
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.79
- MetaSVM 0.72
- CADD 27.40
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- 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)