L194P (p.Leu194Pro) variant of SFTPC (Surfactant protein C)
L194P (p.Leu194Pro) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Surfactant metabolism dysfunction, pulmonary, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature.
L194P (p.Leu194Pro) variant details
- p.Leu194Pro
- rs121918560
- ClinGen CA210546
- ClinVar RCV000014101
- Ensembl rs121918560
- Pathogenic
- Surfactant metabolism dysfunction, pulmonary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- AlphaMissense 0.44
- MetaLR 0.58
- MetaSVM 0.26
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic (Surfactant metabolism dysfunction, pulmonary, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: New surfactant protein C gene mutations associated with diffuse lung disease. (PMID 19443464)