T71M (p.Thr71Met) variant of LIPC (Hepatic triacylglycerol lipase)
T71M (p.Thr71Met) 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 0.59 / 1. The record also includes population frequency data and structural context.
T71M (p.Thr71Met) variant details
- p.Thr71Met
- rs768938270
- cosmic curated COSV54423
- ExAC rs768938270
- TOPMed rs768938270
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.62
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available