L49L (p.Leu49Leu) variant of CFTR (P13569)
L49L (p.Leu49Leu) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs140444668
- gnomAD 7-117504346-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0882
- CADD 1.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available