Y113H (p.Tyr113His) variant of SFTPC (Surfactant protein C)
Y113H (p.Tyr113His) 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 0.66 / 1. The record also includes population frequency data and structural context.
Y113H (p.Tyr113His) variant details
- p.Tyr113His
- rs2538945227
- ClinGen CA370537609
- ClinVar RCV002451823
- Likely pathogenic
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary pulmonary alveolar proteinosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available