A53A (p.Ala53Ala) variant of SFTPC (Surfactant protein C)
A53A (p.Ala53Ala) in SFTPC (Surfactant protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A53A (p.Ala53Ala) variant details
- p.Ala53Ala
- rs376182452
- gnomAD 8-22162690-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 12.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available