L49P (p.Leu49Pro) variant of CFTR (P13569)
L49P (p.Leu49Pro) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- 1000Genomes rs556662007
- ExAC rs556662007
- gnomAD rs556662007
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.85
- MetaSVM 0.96
- CADD 27.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available