R268C (p.Arg268Cys) variant of LCAT (P04180)
R268C (p.Arg268Cys) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Norum disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R268C (p.Arg268Cys) variant details
- p.Arg268Cys
- rs745320775
- ClinGen CA8120954
- ClinVar RCV001818098
- UniProt VAR 066865
- Likely pathogenic
- Norum disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Norum disease)
- EBI: Likely pathogenic (in a patient with low HDL-cholesterol levels)
- UniProt: Likely pathogenic (in a patient with low HDL-cholesterol levels)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and… (PMID 21901787)