W130G (p.Trp130Gly) variant of APOH (Beta-2-glycoprotein 1)
W130G (p.Trp130Gly) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
W130G (p.Trp130Gly) variant details
- p.Trp130Gly
- ExAC rs776349608
- TOPMed rs776349608
- gnomAD rs776349608
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.76
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available