L24F (p.Leu24Phe) variant of CFTR (P13569)
L24F (p.Leu24Phe) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- Ensembl rs55773134
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- ESM-1b 0.00
- AlphaMissense 0.42
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available