S109F (p.Ser109Phe) variant of APOH (Beta-2-glycoprotein 1)
S109F (p.Ser109Phe) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S109F (p.Ser109Phe) variant details
- p.Ser109Phe
- gnomAD rs1339937905
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.40
- CADD 26.20
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available