D47Y (p.Asp47Tyr) variant of CFTR (P13569)
D47Y (p.Asp47Tyr) in CFTR (P13569) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
D47Y (p.Asp47Tyr) variant details
- p.Asp47Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.81
- ESM-1b 0.23
- AlphaMissense 0.73
- MetaLR 0.92
- MetaSVM 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available