L55F (p.Leu55Phe) variant of SFTPC (Surfactant protein C)
L55F (p.Leu55Phe) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SFTPC-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
L55F (p.Leu55Phe) variant details
- p.Leu55Phe
- rs1563221666
- ClinGen CA370536923
- ClinVar RCV003411688
- ClinVar RCV005251196
- Likely pathogenic
- SFTPC-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.69
- MetaLR 0.88
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Likely pathogenic (SFTPC-related disorder; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available