C74* (p.Cys74Ter) variant of LCAT (P04180)
C74* (p.Cys74Ter) in LCAT (P04180) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C74* (p.Cys74Ter) variant details
- p.Cys74Ter
- gnomAD 16-67939980-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.23
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available