E77G (p.Glu77Gly) variant of SFTPC (Surfactant protein C)
E77G (p.Glu77Gly) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E77G (p.Glu77Gly) variant details
- p.Glu77Gly
- TOPMed rs1827826905
- gnomAD rs1827826905
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 23.40
- PolyPhen-2 0.91
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available