I73T (p.Ile73Thr) variant of SFTPC (Surfactant protein C)
I73T (p.Ile73Thr) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary pulmonary alveolar proteinosis; not provided; Surfactant metabolism d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I73T (p.Ile73Thr) variant details
- p.Ile73Thr
- rs121917834
- ClinGen CA210536
- ClinVar RCV000014095
- ClinVar RCV000731190
- Pathogenic/Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; not provided; Surfactant metabolism d
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 23.40
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary pulmonary alveolar proteinosis; not provided; Surfact)
- EBI: Pathogenic (in SMDP2)
- UniProt: Pathogenic (in SMDP2)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. (PMID 15039969)
- Cited in: Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. (PMID 15293602)