L50F (p.Leu50Phe) variant of DOCK8 (Q8NF50)
L50F (p.Leu50Phe) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyper-IgE recurrent infection syndrome 3, autosomal recessive; Inb. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- rs1045835531
- ClinGen CA187758129
- ClinVar RCV003433008
- ClinVar RCV005328519
- Uncertain significance
- not provided; Hyper-IgE recurrent infection syndrome 3, autosomal recessive; Inb
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -1.06
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (not provided; Hyper-IgE recurrent infection syndrome 3, autosoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- 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)