E66K (p.Glu66Lys) variant of SFTPC (Surfactant protein C)
E66K (p.Glu66Lys) 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 0.83 / 1. The record also includes published literature and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- rs121917836
- ClinGen CA210544
- cosmic curated COSV59346
- ClinVar RCV000014100
- Pathogenic
- Surfactant metabolism dysfunction, pulmonary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.61
- MetaLR 0.88
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic (Surfactant metabolism dysfunction, pulmonary, 2)
- EBI: Pathogenic (in SMDP2)
- UniProt: Pathogenic (in SMDP2)
- Structural context available
- Cited in: Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a… (PMID 15557112)
- Cited in: Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular… (PMID 11991887)