N17D (p.Asn17Asp) variant of DOCK8 (Q8NF50)
N17D (p.Asn17Asp) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N17D (p.Asn17Asp) variant details
- p.Asn17Asp
- rs776889811
- ClinGen CA372755831
- ClinVar RCV005555023
- ClinVar RCV006563668
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.63
- MetaLR 0.03
- MetaSVM -1.08
- CADD 24.90
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to DOCK8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)