S10W (p.Ser10Trp) variant of APOH (Beta-2-glycoprotein 1)
S10W (p.Ser10Trp) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S10W (p.Ser10Trp) variant details
- p.Ser10Trp
- ESP rs147357246
- ExAC rs147357246
- TOPMed rs147357246
- gnomAD rs147357246
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.12
- CADD 20.70
- PolyPhen-2 0.49
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available