S29Y (p.Ser29Tyr) variant of SFTPB (P07988)
S29Y (p.Ser29Tyr) in SFTPB (P07988) is a missense change. Clinical records from ClinVar 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 0.29 / 1. The record also includes population frequency data and structural context.
S29Y (p.Ser29Tyr) variant details
- p.Ser29Tyr
- TOPMed rs1443810880
- gnomAD rs1443810880
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.17
- CADD 23.30
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available