D70G (p.Asp70Gly) variant of LIPC (Hepatic triacylglycerol lipase)
D70G (p.Asp70Gly) 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 0.40 / 1. The record also includes population frequency data and structural context.
D70G (p.Asp70Gly) variant details
- p.Asp70Gly
- rs1313779982
- ClinGen CA392610902
- ClinVar RCV003441602
- TOPMed rs1313779982
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.42
- CADD 21.50
- PolyPhen-2 0.54
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available