G23V (p.Gly23Val) variant of LPL (Lipoprotein lipase)
G23V (p.Gly23Val) in LPL (Lipoprotein lipase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- 1000Genomes rs539997018
- ExAC rs539997018
- gnomAD rs539997018
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- MetaLR 0.57
- MetaSVM -0.42
- CADD 20.20
- PolyPhen-2 0.21
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available