G22D (p.Gly22Asp) variant of SFTPC (Surfactant protein C)
G22D (p.Gly22Asp) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- ExAC rs778672867
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 21.10
- PolyPhen-2 0.78
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available