S5G (p.Ser5Gly) variant of SFTPC (Surfactant protein C)
S5G (p.Ser5Gly) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- gnomAD rs1348077478
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 25.60
- PolyPhen-2 0.73
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available