M48T (p.Met48Thr) variant of LIPC (Hepatic triacylglycerol lipase)
M48T (p.Met48Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
M48T (p.Met48Thr) variant details
- p.Met48Thr
- NCI-TCGA Cosmic COSV5442
- cosmic curated COSV54422
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.19
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available