M48V (p.Met48Val) variant of LIPC (Hepatic triacylglycerol lipase)
M48V (p.Met48Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
M48V (p.Met48Val) variant details
- p.Met48Val
- rs777550023
- ClinGen CA7584730
- ClinVar RCV002942035
- ExAC rs777550023
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.13
- CADD 5.58
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available