A7P (p.Ala7Pro) variant of DOCK8 (Q8NF50)
A7P (p.Ala7Pro) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- gnomAD 9-214995-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.25
- MetaLR 0.05
- MetaSVM -1.05
- CADD 25.40
- PolyPhen-2 0.10
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available