G22S (p.Gly22Ser) variant of SFTPC (Surfactant protein C)
G22S (p.Gly22Ser) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- gnomAD 8-22162595-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 21.10
- PolyPhen-2 0.17
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available