K63E (p.Lys63Glu) variant of SFTPC (Surfactant protein C)
K63E (p.Lys63Glu) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Surfactant metabolism dysfunction, pulmonary, 2. The record also includes structural context.
K63E (p.Lys63Glu) variant details
- p.Lys63Glu
- rs2538941498
- ClinGen CA370536980
- ClinVar RCV002283993
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 2
- Missense
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available