H46Q (p.His46Gln) variant of LIPC (Hepatic triacylglycerol lipase)
H46Q (p.His46Gln) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from ClinVar 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 0.17 / 1. The record also includes population frequency data and structural context.
H46Q (p.His46Gln) variant details
- p.His46Gln
- gnomAD rs1893208573
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.17
- CADD 5.34
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.5e-05)
- Structural context available