G57S (p.Gly57Ser) variant of SFTPC (Surfactant protein C)
G57S (p.Gly57Ser) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- cosmic curated COSV59345
- ESP rs369239281
- ExAC rs369239281
- TOPMed rs369239281
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available