Y106H (p.Tyr106His) variant of SFTPC (Surfactant protein C)
Y106H (p.Tyr106His) 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 Interstitial lung disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
Y106H (p.Tyr106His) variant details
- p.Tyr106His
- rs1586421317
- ClinGen CA370537505
- ClinVar RCV000988043
- Ensembl rs1586421317
- Likely pathogenic
- Interstitial lung disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.49
- MetaLR 0.71
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.71
- ClinVar: Likely pathogenic (Interstitial lung disease 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)