T45H (p.Thr45His) variant of LPL (Lipoprotein lipase)
T45H (p.Thr45His) in LPL (Lipoprotein lipase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T45H (p.Thr45His) variant details
- p.Thr45His
- gnomAD 8-19948223-GACCCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 29.50
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available