Y107* (p.Tyr107Ter) variant of LCAT (P04180)
Y107* (p.Tyr107Ter) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Y107* (p.Tyr107Ter) variant details
- p.Tyr107Ter
- rs121908055
- ClinGen CA116426
- ClinVar RCV000003856
- ClinVar RCV002496248
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available
- Cited in: Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly… (PMID 8432868)