L6F (p.Leu6Phe) variant of APOH (Beta-2-glycoprotein 1)
L6F (p.Leu6Phe) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- TOPMed rs1157005765
- gnomAD rs1157005765
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.09
- CADD 14.50
- PolyPhen-2 0.21
- SIFT 0.08
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available