L75V (p.Leu75Val) variant of DOCK8 (Q8NF50)
L75V (p.Leu75Val) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L75V (p.Leu75Val) variant details
- p.Leu75Val
- rs368133450
- ClinGen CA4957137
- ClinVar RCV001046845
- ClinVar RCV003151273
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.03
- AlphaMissense 0.08
- MetaLR 0.13
- MetaSVM -1.00
- CADD 14.50
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to DOCK8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)