A36D (p.Ala36Asp) variant of LIPC (Hepatic triacylglycerol lipase)
A36D (p.Ala36Asp) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- rs1184798854
- ClinGen CA392610680
- ClinVar RCV003667909
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.45
- PolyPhen-2 0.00
- SIFT 0.52
- MutPred 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available