A112P (p.Ala112Pro) variant of SFTPC (Surfactant protein C)
A112P (p.Ala112Pro) in SFTPC (Surfactant protein C) 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 0.50 / 1. The record also includes structural context.
A112P (p.Ala112Pro) variant details
- p.Ala112Pro
- rs372529179
- ClinGen CA370537599
- ClinVar RCV002320976
- Likely pathogenic
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.12
- MetaLR 0.59
- MetaSVM 0.40
- PolyPhen-2 0.02
- SIFT 0.04
- MutPred 0.72
- ClinVar: Likely pathogenic (Hereditary pulmonary alveolar proteinosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available