E8G (p.Glu8Gly) variant of DOCK8 (Q8NF50)
E8G (p.Glu8Gly) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- gnomAD rs2046706273
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.58
- MetaLR 0.03
- MetaSVM -1.08
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available