A11E (p.Ala11Glu) variant of DOCK8 (Q8NF50)
A11E (p.Ala11Glu) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- Ensembl rs2046706663
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.90
- MetaLR 0.05
- MetaSVM -1.06
- CADD 25.20
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available