L24W (p.Leu24Trp) variant of CFTR (P13569)
L24W (p.Leu24Trp) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L24W (p.Leu24Trp) variant details
- p.Leu24Trp
- gnomAD 7-117504270-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.93
- MetaSVM 1.07
- CADD 27.80
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Literature evidence available