L68M (p.Leu68Met) variant of DOCK8 (Q8NF50)
L68M (p.Leu68Met) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L68M (p.Leu68Met) variant details
- p.Leu68Met
- rs980203348
- ClinGen CA187775428
- ClinVar RCV004973459
- ClinVar RCV006471500
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.15
- MetaLR 0.07
- MetaSVM -1.07
- CADD 21.20
- PolyPhen-2 0.47
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to DOCK8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)