T70R (p.Thr70Arg) variant of DOCK8 (Q8NF50)
T70R (p.Thr70Arg) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T70R (p.Thr70Arg) variant details
- p.Thr70Arg
- TOPMed rs1019319527
- gnomAD rs1019319527
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- AlphaMissense 0.15
- MetaLR 0.20
- MetaSVM -0.83
- CADD 17.70
- PolyPhen-2 0.29
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available