R23D (p.Arg23Asp) variant of SFTPC (Surfactant protein C)
R23D (p.Arg23Asp) in SFTPC (Surfactant protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
R23D (p.Arg23Asp) variant details
- p.Arg23Asp
- rs1563221226
- gnomAD 8-22162596-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 24.60
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Literature evidence available