H38R (p.His38Arg) variant of DOCK8 (Q8NF50)
H38R (p.His38Arg) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H38R (p.His38Arg) variant details
- p.His38Arg
- TOPMed rs985067218
- gnomAD rs985067218
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.06
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available