E37K (p.Glu37Lys) variant of APOE (Apolipoprotein E)
E37K (p.Glu37Lys) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alzheimer disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs142480126
- NCI-TCGA Cosmic COSV9937
- ESP rs142480126
- ExAC rs142480126
- Uncertain significance
- Alzheimer disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.21
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (Alzheimer disease 2)
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available