M48R (p.Met48Arg) variant of LIPC (Hepatic triacylglycerol lipase)
M48R (p.Met48Arg) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
M48R (p.Met48Arg) variant details
- p.Met48Arg
- rs145223292
- ClinGen CA7584731
- ClinVar RCV003109038
- ClinVar RCV004244574
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.23
- CADD 2.05
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available