D36H (p.Asp36His) variant of LPL (Lipoprotein lipase)
D36H (p.Asp36His) in LPL (Lipoprotein lipase) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
D36H (p.Asp36His) variant details
- p.Asp36His
- 1000Genomes rs1801177
- ESP rs1801177
- ExAC rs1801177
- TOPMed rs1801177
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 24.10
- PolyPhen-2 0.94
- SIFT 0.02
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available