E8Q (p.Glu8Gln) variant of DOCK8 (Q8NF50)
E8Q (p.Glu8Gln) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- gnomAD 9-214998-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.55
- MetaLR 0.02
- MetaSVM -1.03
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available