E77K (p.Glu77Lys) variant of SFTPC (Surfactant protein C)
E77K (p.Glu77Lys) 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.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- ExAC rs772841457
- TOPMed rs772841457
- gnomAD rs772841457
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 25.20
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available