D2V (p.Asp2Val) variant of LIPC (Hepatic triacylglycerol lipase)
D2V (p.Asp2Val) 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 0.47 / 1. The record also includes population frequency data and structural context.
D2V (p.Asp2Val) variant details
- p.Asp2Val
- rs756402865
- ClinGen CA7584664
- ClinVar RCV003848298
- ExAC rs756402865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.28
- CADD 15.10
- PolyPhen-2 0.03
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available