E97G (p.Glu97Gly) variant of SFTPB (P07988)
E97G (p.Glu97Gly) 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 0.47 / 1. The record also includes population frequency data and structural context.
E97G (p.Glu97Gly) variant details
- p.Glu97Gly
- ExAC rs755008142
- TOPMed rs755008142
- gnomAD rs755008142
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available