V8F (p.Val8Phe) variant of SFTPC (Surfactant protein C)
V8F (p.Val8Phe) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
V8F (p.Val8Phe) variant details
- p.Val8Phe
- TOPMed rs1489591822
- gnomAD rs1489591822
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 25.00
- PolyPhen-2 0.78
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available