T50N (p.Thr50Asn) variant of LIPC (Hepatic triacylglycerol lipase)
T50N (p.Thr50Asn) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
T50N (p.Thr50Asn) variant details
- p.Thr50Asn
- gnomAD 15-58538393-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.53
- MetaLR 0.75
- MetaSVM 0.41
- CADD 22.30
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available