L110P (p.Leu110Pro) variant of SFTPC (Surfactant protein C)
L110P (p.Leu110Pro) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary pulmonary alveolar proteinosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1.
L110P (p.Leu110Pro) variant details
- p.Leu110Pro
- rs1003901489
- ClinGen CA370537583
- ClinVar RCV002454674
- ClinVar RCV005096231
- Pathogenic/Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.44
- MetaLR 0.68
- MetaSVM 0.47
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic/Likely pathogenic (Hereditary pulmonary alveolar proteinosis; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic