Q39L (p.Gln39Leu) variant of CFTR (P13569)
Q39L (p.Gln39Leu) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q39L (p.Gln39Leu) variant details
- p.Gln39Leu
- gnomAD 7-117504315-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.53
- MetaSVM -0.17
- CADD 23.90
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available