S12N (p.Ser12Asn) variant of SFTPC (Surfactant protein C)
S12N (p.Ser12Asn) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- TOPMed rs1827738336
- gnomAD rs1827738336
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available