M56L (p.Met56Leu) variant of SFTPC (Surfactant protein C)
M56L (p.Met56Leu) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
M56L (p.Met56Leu) variant details
- p.Met56Leu
- TOPMed rs1320098621
- gnomAD rs1320098621
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.43
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available