K15Q (p.Lys15Gln) variant of DOCK8 (Q8NF50)
K15Q (p.Lys15Gln) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgE recurrent infection syndrome 3, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K15Q (p.Lys15Gln) variant details
- p.Lys15Gln
- rs1219439848
- ClinGen CA372755781
- ClinVar RCV005416668
- TOPMed rs1219439848
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.69
- MetaLR 0.05
- MetaSVM -1.10
- CADD 24.80
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available