S107N (p.Ser107Asn) variant of APOH (Beta-2-glycoprotein 1)
S107N (p.Ser107Asn) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele APOH*1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S107N (p.Ser107Asn) variant details
- p.Ser107Asn
- rs1801692
- UniProt VAR 008169
- 1000Genomes rs1801692
- ESP rs1801692
- Benign
- in allele APOH*1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0778
- REVEL 0.05
- CADD 5.89
- PolyPhen-2 0.00
- SIFT 0.54
- EBI: Benign (in allele APOH*1)
- UniProt: Benign (in allele APOH*1)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)
- Cited in: Molecular basis of the apolipoprotein H (beta 2-glycoprotein I) protein polymorphism. (PMID 9225969)