L6R (p.Leu6Arg) variant of CFTR (P13569)
L6R (p.Leu6Arg) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- gnomAD rs1327925872
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.37
- MetaSVM -0.40
- CADD 23.60
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available