A166T (p.Ala166Thr) variant of LCAT (P04180)
A166T (p.Ala166Thr) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fish-eye disease; Norum disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A166T (p.Ala166Thr) variant details
- p.Ala166Thr
- ExAC rs757270498
- TOPMed rs757270498
- gnomAD rs757270498
- Pathogenic/Likely pathogenic
- Fish-eye disease; Norum disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.87
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Fish-eye disease; Norum disease; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available