L54I (p.Leu54Ile) variant of LIPC (Hepatic triacylglycerol lipase)
L54I (p.Leu54Ile) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L54I (p.Leu54Ile) variant details
- p.Leu54Ile
- NCI-TCGA Cosmic COSV5442
- cosmic curated COSV54426
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.67
- CADD 23.80
- PolyPhen-2 0.96
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available