L53F (p.Leu53Phe) variant of CFTR (P13569)
L53F (p.Leu53Phe) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- gnomAD 7-117504358-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.68
- MetaLR 0.53
- MetaSVM -0.18
- CADD 21.50
- Population evidence available
- Structural context available
- Literature evidence available