L6V (p.Leu6Val) variant of APOH (Beta-2-glycoprotein 1)
L6V (p.Leu6Val) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- TOPMed rs1157005765
- gnomAD rs1157005765
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.09
- CADD 16.70
- PolyPhen-2 0.46
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available