W85* (p.Trp85Ter) variant of LCAT (P04180)
W85* (p.Trp85Ter) in LCAT (P04180) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
W85* (p.Trp85Ter) variant details
- p.Trp85Ter
- TOPMed rs1328187167
- gnomAD rs1328187167
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available