T44M (p.Thr44Met) variant of LIPC (Hepatic triacylglycerol lipase)
T44M (p.Thr44Met) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
T44M (p.Thr44Met) variant details
- p.Thr44Met
- cosmic curated COSV10515
- ExAC rs549763129
- TOPMed rs549763129
- gnomAD rs549763129
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.30
- CADD 5.01
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available