E8V (p.Glu8Val) variant of DOCK8 (Q8NF50)
E8V (p.Glu8Val) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E8V (p.Glu8Val) variant details
- p.Glu8Val
- gnomAD 9-214999-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.82
- MetaLR 0.06
- MetaSVM -1.06
- CADD 27.90
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available