H32L (p.His32Leu) variant of SFTPC (Surfactant protein C)
H32L (p.His32Leu) 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 not provided. The record also includes structural context.
H32L (p.His32Leu) variant details
- p.His32Leu
- rs2538941008
- ClinGen CA370536730
- ClinVar RCV002298223
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available