M56I (p.Met56Ile) variant of SFTPC (Surfactant protein C)
M56I (p.Met56Ile) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
M56I (p.Met56Ile) variant details
- p.Met56Ile
- gnomAD rs1232177240
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available