R23* (p.Arg23Ter) variant of SFTPC (Surfactant protein C)
R23* (p.Arg23Ter) in SFTPC (Surfactant protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
R23* (p.Arg23Ter) variant details
- p.Arg23Ter
- ESP rs375581850
- ExAC rs375581850
- TOPMed rs375581850
- gnomAD rs375581850
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 44.00
- Most common in the African/African-American population (allele frequency 2.4e-05)