A36V (p.Ala36Val) variant of LIPC (Hepatic triacylglycerol lipase)
A36V (p.Ala36Val) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- gnomAD rs1184798854
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.18
- AlphaMissense 0.08
- MetaLR 0.51
- MetaSVM -0.45
- CADD 12.00
- PolyPhen-2 0.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available