V68F (p.Val68Phe) variant of SFTPC (Surfactant protein C)
V68F (p.Val68Phe) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
V68F (p.Val68Phe) variant details
- p.Val68Phe
- rs2131816806
- ClinGen CA370537165
- ClinVar RCV001906643
- ClinVar RCV002423012
- Conflicting interpretations
- not provided; Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.64
- MetaLR 0.88
- MetaSVM 0.92
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.82
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary pulmonary alveolar proteinosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available