F18* (p.Phe18Ter) variant of SDHC (Q99643)
F18* (p.Phe18Ter) in SDHC (Q99643) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F18* (p.Phe18Ter) variant details
- p.Phe18Ter
- gnomAD 1-161323644-CTT-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available