F28L (p.Phe28Leu) variant of DOCK8 (Q8NF50)
F28L (p.Phe28Leu) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Combined immunodeficiency due to DOCK8 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
F28L (p.Phe28Leu) variant details
- p.Phe28Leu
- rs2048168645
- ClinGen CA372752302
- ClinVar RCV001349588
- ClinVar RCV002545614
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- AlphaMissense 0.80
- MetaLR 0.02
- MetaSVM -1.07
- PolyPhen-2 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to DOCK8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)