C302G (p.Cys302Gly) variant of SFTPB (P07988)
C302G (p.Cys302Gly) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C302G (p.Cys302Gly) variant details
- p.Cys302Gly
- rs2104400347
- ClinGen CA347487352
- ClinVar RCV002373973
- Likely pathogenic
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.88
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary pulmonary alveolar proteinosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available