G4S (p.Gly4Ser) variant of SFTPC (Surfactant protein C)
G4S (p.Gly4Ser) 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, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G4S (p.Gly4Ser) variant details
- p.Gly4Ser
- rs201896861
- ClinGen CA4663850
- cosmic curated COSV59346
- ClinVar RCV001248771
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 15.50
- PolyPhen-2 0.17
- SIFT 0.66
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available