D68H (p.Asp68His) variant of LCAT (P04180)
D68H (p.Asp68His) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D68H (p.Asp68His) variant details
- p.Asp68His
- 1000Genomes rs538047729
- ExAC rs538047729
- TOPMed rs538047729
- gnomAD rs538047729
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.24
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available