P22R (p.Pro22Arg) variant of CFTR (P13569)
P22R (p.Pro22Arg) 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 0.79 / 1. The record also includes structural context.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.83
- ESM-1b 0.61
- AlphaMissense 0.30
- MetaLR 0.92
- MetaSVM 0.97
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available