M71I (p.Met71Ile) variant of SFTPC (Surfactant protein C)
M71I (p.Met71Ile) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
M71I (p.Met71Ile) variant details
- p.Met71Ile
- TOPMed rs1827825083
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.09
- Population evidence available
- Structural context available