P58H (p.Pro58His) variant of DOCK8 (Q8NF50)
P58H (p.Pro58His) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P58H (p.Pro58His) variant details
- p.Pro58His
- 1000Genomes rs181739250
- ESP rs181739250
- ExAC rs181739250
- TOPMed rs181739250
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.34
- MetaLR 0.05
- MetaSVM -1.19
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available