G244S (p.Gly244Ser) variant of SFTPB (P07988)
G244S (p.Gly244Ser) 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 0.53 / 1. The record also includes population frequency data and structural context.
G244S (p.Gly244Ser) variant details
- p.Gly244Ser
- rs1001637675
- ClinGen CA51751860
- ClinVar RCV001257452
- ClinVar RCV002393669
- Likely pathogenic
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.36
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Likely pathogenic (Hereditary pulmonary alveolar proteinosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available