P41L (p.Pro41Leu) variant of CFTR (P13569)
P41L (p.Pro41Leu) 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 0.37 / 1. The record also includes structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.52
- MetaSVM -0.08
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available