E161K (p.Glu161Lys) variant of LCAT (P04180)
E161K (p.Glu161Lys) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Norum disease; Fish-eye disease; LCAT deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E161K (p.Glu161Lys) variant details
- p.Glu161Lys
- rs768148804
- ClinGen CA8121066
- ClinVar RCV001117244
- ClinVar RCV002491366
- Uncertain significance
- Norum disease; Fish-eye disease; LCAT deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.60
- CADD 22.50
- PolyPhen-2 0.64
- SIFT 0.26
- ClinVar: Uncertain significance (Norum disease; Fish-eye disease; LCAT deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available