L53I (p.Leu53Ile) variant of CFTR (P13569)
L53I (p.Leu53Ile) in CFTR (P13569) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L53I (p.Leu53Ile) variant details
- p.Leu53Ile
- rs1346705436
- gnomAD 7-117504350-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available