L49V (p.Leu49Val) variant of CFTR (P13569)
L49V (p.Leu49Val) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- gnomAD 7-117504344-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.41
- ESM-1b 0.79
- AlphaMissense 0.14
- MetaLR 0.65
- MetaSVM 0.26
- CADD 22.20
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available