S5I (p.Ser5Ile) variant of SFTPC (Surfactant protein C)
S5I (p.Ser5Ile) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- gnomAD 8-22161842-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 25.90
- PolyPhen-2 0.88
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available