E74A (p.Glu74Ala) variant of LIPC (Hepatic triacylglycerol lipase)
E74A (p.Glu74Ala) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E74A (p.Glu74Ala) variant details
- p.Glu74Ala
- gnomAD 15-58538465-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.25
- MetaLR 0.37
- MetaSVM -0.67
- CADD 16.40
- PolyPhen-2 0.03
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available