R39Q (p.Arg39Gln) variant of DOCK8 (Q8NF50)
R39Q (p.Arg39Gln) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- TOPMed rs909479628
- gnomAD rs909479628
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.04
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.67
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available