G21S (p.Gly21Ser) variant of SFTPB (P07988)
G21S (p.Gly21Ser) in SFTPB (P07988) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs1677747290
- ClinGen CA347493036
- ClinVar RCV002387237
- gnomAD rs1677747290
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- CADD 10.30
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available