A2V (p.Ala2Val) variant of DOCK8 (Q8NF50)
A2V (p.Ala2Val) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs2046705750
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.93
- MetaLR 0.04
- MetaSVM -1.07
- CADD 25.00
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available