R25G (p.Arg25Gly) variant of DOCK8 (Q8NF50)
R25G (p.Arg25Gly) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to DOCK8 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- rs1026518997
- ClinGen CA187758056
- ClinVar RCV006468946
- Ensembl rs1026518997
- Uncertain significance
- Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.93
- MetaLR 0.11
- MetaSVM -0.96
- PolyPhen-2 0.01
- MutPred 0.76
- ClinVar: Uncertain significance (Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available