I50M (p.Ile50Met) variant of SFTPC (Surfactant protein C)
I50M (p.Ile50Met) 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; Surfactant metabolism dysfunction, pu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I50M (p.Ile50Met) variant details
- p.Ile50Met
- rs768981838
- ClinGen CA4663914
- ClinVar RCV003136636
- ClinVar RCV005744631
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis; Surfactant metabolism dysfunction, pu
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 22.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis; Surfactant metabolism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available