A53D (p.Ala53Asp) variant of SFTPC (Surfactant protein C)
A53D (p.Ala53Asp) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A53D (p.Ala53Asp) variant details
- p.Ala53Asp
- gnomAD rs1380423232
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available