M276K (p.Met276Lys) variant of LCAT (P04180)
M276K (p.Met276Lys) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M276K (p.Met276Lys) variant details
- p.Met276Lys
- rs121908054
- ClinGen CA116421
- ClinVar RCV000003850
- UniProt VAR 004264
- Pathogenic
- LCAT deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.93
- CADD 26.80
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Pathogenic (LCAT deficiency)
- EBI: Pathogenic (in FED)
- UniProt: Pathogenic (in FED)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. (PMID 1516702)
- Cited in: Familial serum-cholesterol esterification failure. A new inborn error of metabolism. (PMID 6078131)