M317I (p.Met317Ile) variant of LCAT (P04180)
M317I (p.Met317Ile) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
M317I (p.Met317Ile) variant details
- p.Met317Ile
- rs121908048
- ClinGen CA116414
- ClinVar RCV000003842
- UniProt VAR 004265
- Pathogenic
- LCAT deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.94
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (LCAT deficiency)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. (PMID 1681161)
- Cited in: Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene. (PMID 1859405)