K38E (p.Lys38Glu) variant of APOH (Beta-2-glycoprotein 1)
K38E (p.Lys38Glu) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K38E (p.Lys38Glu) variant details
- p.Lys38Glu
- rs398124629
- ClinGen CA224420
- ClinVar RCV000082872
- TOPMed rs398124629
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available