W170R (p.Trp170Arg) variant of LCAT (P04180)
W170R (p.Trp170Arg) 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 0.95 / 1. The record also includes published literature and structural context.
W170R (p.Trp170Arg) variant details
- p.Trp170Arg
- rs267607211
- ClinGen CA116412
- ClinVar RCV000003841
- Ensembl rs267607211
- Pathogenic
- LCAT deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 0.78
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (LCAT deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele. (PMID 2370048)
- Cited in: A new case of familial LCAT deficiency. (PMID 6624548)