L49I (p.Leu49Ile) variant of CFTR (P13569)
L49I (p.Leu49Ile) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L49I (p.Leu49Ile) variant details
- p.Leu49Ile
- gnomAD 7-117504344-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.42
- ESM-1b 0.55
- AlphaMissense 0.12
- MetaLR 0.77
- MetaSVM 0.62
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available