R159Q (p.Arg159Gln) variant of LCAT (P04180)
R159Q (p.Arg159Gln) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R159Q (p.Arg159Gln) variant details
- p.Arg159Gln
- rs768017317
- UniProt VAR 039027
- ExAC rs768017317
- TOPMed rs768017317
- Pathogenic
- in FED
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.90
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Pathogenic (in FED)
- UniProt: Pathogenic (in FED)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Two novel molecular defects in the LCAT gene are associated with fish eye disease. (PMID 8620346)
- Cited in: The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. (PMID 1516702)