M10R (p.Met10Arg) variant of SFTPC (Surfactant protein C)
M10R (p.Met10Arg) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
M10R (p.Met10Arg) variant details
- p.Met10Arg
- TOPMed rs1827737800
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 28.90
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available