M10I (p.Met10Ile) variant of SFTPC (Surfactant protein C)
M10I (p.Met10Ile) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M10I (p.Met10Ile) variant details
- p.Met10Ile
- TOPMed rs1827737974
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available