F17Q (p.Phe17Gln) variant of CFTR (P13569)
F17Q (p.Phe17Gln) in CFTR (P13569) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
F17Q (p.Phe17Gln) variant details
- p.Phe17Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- ESM-1b 1.00
- AlphaMissense 0.94
- UniProt: Variant assessed as somatic; high impact.
- Structural context available