G46D (p.Gly46Asp) variant of DOCK8 (Q8NF50)
G46D (p.Gly46Asp) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Severe combined immunodeficiency disease; Hyper-IgE recurrent infection syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- rs758437810
- ClinGen CA187758124
- ClinVar RCV005416641
- ClinVar RCV005433242
- Conflicting interpretations
- Severe combined immunodeficiency disease; Hyper-IgE recurrent infection syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.22
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.10
- PolyPhen-2 0.73
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Severe combined immunodeficiency disease; Hyper-IgE recurrent in)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available