A18T (p.Ala18Thr) variant of SFTPC (Surfactant protein C)
A18T (p.Ala18Thr) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- ExAC rs755609275
- gnomAD rs755609275
- Likely benign
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Likely benign (Hereditary pulmonary alveolar proteinosis)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available