L6V (p.Leu6Val) variant of LIPC (Hepatic triacylglycerol lipase)
L6V (p.Leu6Val) in LIPC (Hepatic triacylglycerol lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- rs1219816687
- gnomAD 15-58432047-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 15.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available