M48I (p.Met48Ile) variant of LIPC (Hepatic triacylglycerol lipase)
M48I (p.Met48Ile) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- gnomAD 15-58538388-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.23
- MetaLR 0.13
- MetaSVM -0.61
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available