K26E (p.Lys26Glu) variant of DOCK8 (Q8NF50)
K26E (p.Lys26Glu) in DOCK8 (Q8NF50) 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 0.49 / 1. The record also includes population frequency data and structural context.
K26E (p.Lys26Glu) variant details
- p.Lys26Glu
- gnomAD rs2048168392
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.66
- MetaLR 0.06
- MetaSVM -1.12
- CADD 24.10
- PolyPhen-2 0.32
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available