R18G (p.Arg18Gly) variant of DOCK8 (Q8NF50)
R18G (p.Arg18Gly) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Combined immunodeficiency due to DOCK8 de. 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.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- rs200689054
- ClinGen CA4956918
- ClinVar RCV000494317
- ClinVar RCV000624829
- Conflicting interpretations
- not provided; Inborn genetic diseases; Combined immunodeficiency due to DOCK8 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.92
- MetaLR 0.04
- MetaSVM -1.10
- CADD 26.90
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Combined immunodeficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- 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)