I66V (p.Ile66Val) variant of LIPC (Hepatic triacylglycerol lipase)
I66V (p.Ile66Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
I66V (p.Ile66Val) variant details
- p.Ile66Val
- rs140029729
- ClinGen CA7584749
- ClinVar RCV003549359
- ESP rs140029729
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.10
- CADD 0.79
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00056)
- Structural context available