P30S (p.Pro30Ser) variant of SFTPC (Surfactant protein C)
P30S (p.Pro30Ser) 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 Hereditary pulmonary alveolar proteinosis. The record also includes structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs2538940967
- ClinGen CA370536708
- ClinVar RCV002376051
- NCI-TCGA TCGA novel
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available