W8* (p.Trp8Ter) variant of LCAT (P04180)
W8* (p.Trp8Ter) in LCAT (P04180) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
W8* (p.Trp8Ter) variant details
- p.Trp8Ter
- rs2544411002
- ClinGen CA396383039
- ClinVar RCV002717215
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available