K473R (p.Lys473Arg) variant of DOCK8 (Q8NF50)
K473R (p.Lys473Arg) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Combined immunodeficiency due to DOCK8 deficiency; Severe combined immunodeficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
K473R (p.Lys473Arg) variant details
- p.Lys473Arg
- rs112321280
- ClinGen CA114673
- ClinVar RCV000000999
- ClinVar RCV006263610
- Pathogenic
- Combined immunodeficiency due to DOCK8 deficiency; Severe combined immunodeficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -0.98
- PolyPhen-2 0.73
- SIFT 0.17
- EVE 0.28
- ClinVar: Pathogenic (Combined immunodeficiency due to DOCK8 deficiency; Severe combin)
- EBI: Pathogenic (in HIES2)
- UniProt: Pathogenic (in HIES2)
- Structural context available
- Cited in: Combined immunodeficiency associated with DOCK8 mutations. (PMID 19776401)