V11L (p.Val11Leu) variant of CFTR (P13569)
V11L (p.Val11Leu) 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 0.25 / 1. The record also includes structural context.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- ESP rs1800072
- ExAC rs1800072
- TOPMed rs1800072
- gnomAD rs1800072
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.25
- MetaSVM -0.86
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available