N252K (p.Asn252Lys) variant of LCAT (P04180)
N252K (p.Asn252Lys) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of LCAT deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
N252K (p.Asn252Lys) variant details
- p.Asn252Lys
- rs121908049
- ClinGen CA116417
- ClinVar RCV000003844
- UniProt VAR 004263
- Pathogenic
- LCAT deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.77
- CADD 25.20
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic (LCAT deficiency)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. (PMID 1681161)
- Cited in: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial… (PMID 11423760)