S17Y (p.Ser17Tyr) variant of SFTPC (Surfactant protein C)
S17Y (p.Ser17Tyr) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S17Y (p.Ser17Tyr) variant details
- p.Ser17Tyr
- Ensembl rs2131814661
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available