S17P (p.Ser17Pro) variant of SFTPC (Surfactant protein C)
S17P (p.Ser17Pro) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- gnomAD 8-22162580-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 21.40
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available