V136F (p.Val136Phe) variant of APOH (Beta-2-glycoprotein 1)
V136F (p.Val136Phe) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V136F (p.Val136Phe) variant details
- p.Val136Phe
- gnomAD rs1318742692
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.36
- CADD 24.00
- PolyPhen-2 0.51
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available