A75A (p.Ala75Ala) variant of SFTPC (Surfactant protein C)
A75A (p.Ala75Ala) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A75A (p.Ala75Ala) variant details
- p.Ala75Ala
- rs369210212
- gnomAD 8-22163103-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.18
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Literature evidence available