A7T (p.Ala7Thr) variant of DOCK8 (Q8NF50)
A7T (p.Ala7Thr) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- gnomAD 9-214995-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.17
- MetaLR 0.02
- MetaSVM -0.96
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available