S10L (p.Ser10Leu) variant of APOH (Beta-2-glycoprotein 1)
S10L (p.Ser10Leu) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- ESP rs147357246
- ExAC rs147357246
- TOPMed rs147357246
- gnomAD rs147357246
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0876
- REVEL 0.04
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available