G53A (p.Gly53Ala) variant of SFTPB (P07988)
G53A (p.Gly53Ala) 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 0.40 / 1. The record also includes population frequency data and structural context.
G53A (p.Gly53Ala) variant details
- p.Gly53Ala
- 1000Genomes rs543297835
- TOPMed rs543297835
- gnomAD rs543297835
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.21
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available