T50I (p.Thr50Ile) variant of LIPC (Hepatic triacylglycerol lipase)
T50I (p.Thr50Ile) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- gnomAD rs201591235
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.20
- CADD 15.60
- PolyPhen-2 0.27
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available