A117T (p.Ala117Thr) variant of LCAT (P04180)
A117T (p.Ala117Thr) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in LCATD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A117T (p.Ala117Thr) variant details
- p.Ala117Thr
- rs28940886
- ClinVar RCV000003852
- UniProt VAR 004255
- ExAC rs28940886
- no classification for the single variant
- in LCATD
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.58
- AlphaMissense 0.79
- MetaLR 0.16
- MetaSVM -0.91
- CADD 22.90
- PolyPhen-2 0.61
- ClinVar: no classification for the single variant (in LCATD)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein… (PMID 8318557)
- Cited in: Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly… (PMID 8432868)