V43L (p.Val43Leu) variant of CFTR (P13569)
V43L (p.Val43Leu) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- 1000Genomes rs370586917
- ESP rs370586917
- ExAC rs370586917
- TOPMed rs370586917
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.81
- CADD 6.67
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available