P5Q (p.Pro5Gln) variant of DOCK8 (Q8NF50)
P5Q (p.Pro5Gln) 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, published literature, and structural context.
P5Q (p.Pro5Gln) variant details
- p.Pro5Gln
- gnomAD 9-214990-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.30
- MetaLR 0.05
- MetaSVM -1.07
- CADD 24.90
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available