E8K (p.Glu8Lys) variant of DOCK8 (Q8NF50)
E8K (p.Glu8Lys) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to DOCK8 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- rs1188948475
- ClinGen CA372755608
- ClinVar RCV006466389
- gnomAD rs1188948475
- Uncertain significance
- Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.89
- MetaLR 0.02
- MetaSVM -1.03
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available