H46D (p.His46Asp) variant of LIPC (Hepatic triacylglycerol lipase)
H46D (p.His46Asp) 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 and structural context.
H46D (p.His46Asp) variant details
- p.His46Asp
- cosmic curated COSV10515
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.24
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available