E8E (p.Glu8Glu) variant of DOCK8 (Q8NF50)
E8E (p.Glu8Glu) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E8E (p.Glu8Glu) variant details
- p.Glu8Glu
- rs780984101
- gnomAD 9-215000-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.355
- MetaLR 0.03
- MetaSVM -1.07
- CADD 23.70
- PolyPhen-2 0.56
- MutPred 0.32
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available