A78D (p.Ala78Asp) variant of SFTPC (Surfactant protein C)
A78D (p.Ala78Asp) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A78D (p.Ala78Asp) variant details
- p.Ala78Asp
- 1000Genomes rs2131816947
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 23.50
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available