A13E (p.Ala13Glu) variant of DOCK8 (Q8NF50)
A13E (p.Ala13Glu) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- gnomAD 9-215014-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.97
- MetaLR 0.03
- MetaSVM -1.04
- CADD 24.50
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available