E60D (p.Glu60Asp) variant of DOCK8 (Q8NF50)
E60D (p.Glu60Asp) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hyper-IgE recurrent infection syndrome 3, autosomal recessive; In. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- rs370107163
- ClinGen CA4957131
- ClinVar RCV001816840
- ClinVar RCV004027399
- Uncertain significance
- not specified; Hyper-IgE recurrent infection syndrome 3, autosomal recessive; In
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -1.12
- CADD 16.30
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; Hyper-IgE recurrent infection syndrome 3, autosom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)