R39P (p.Arg39Pro) variant of DOCK8 (Q8NF50)
R39P (p.Arg39Pro) 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.
R39P (p.Arg39Pro) variant details
- p.Arg39Pro
- TOPMed rs909479628
- gnomAD rs909479628
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.19
- MetaLR 0.03
- MetaSVM -1.06
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available