L32P (p.Leu32Pro) variant of CFTR (P13569)
L32P (p.Leu32Pro) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- gnomAD rs397508821
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.91
- MetaSVM 1.05
- CADD 28.40
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available