N73S (p.Asn73Ser) variant of DOCK8 (Q8NF50)
N73S (p.Asn73Ser) 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; Hyper-IgE recurrent infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N73S (p.Asn73Ser) variant details
- p.Asn73Ser
- rs886063849
- ClinGen CA10627201
- ClinVar RCV000308403
- ClinVar RCV005416339
- Uncertain significance
- Combined immunodeficiency due to DOCK8 deficiency; Hyper-IgE recurrent infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.05
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.03
- CADD 14.10
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Combined immunodeficiency due to DOCK8 deficiency; Hyper-IgE rec)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)