R252C (p.Arg252Cys) variant of SFTPB (P07988)
R252C (p.Arg252Cys) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R252C (p.Arg252Cys) variant details
- p.Arg252Cys
- rs772619023
- ClinGen CA1743940
- ClinVar RCV002416681
- ExAC rs772619023
- Pathogenic
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.76
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary pulmonary alveolar proteinosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available