L53L (p.Leu53Leu) variant of CFTR (P13569)
L53L (p.Leu53Leu) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L53L (p.Leu53Leu) variant details
- p.Leu53Leu
- rs2116635315
- gnomAD 7-117504358-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 8.52
- Population evidence available
- Structural context available
- Literature evidence available