R18K (p.Arg18Lys) variant of DOCK8 (Q8NF50)
R18K (p.Arg18Lys) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R18K (p.Arg18Lys) variant details
- p.Arg18Lys
- rs1197388365
- ClinGen CA372755865
- ClinVar RCV005057725
- TOPMed rs1197388365
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- MetaLR 0.01
- MetaSVM -1.02
- CADD 27.40
- PolyPhen-2 0.94
- SIFT 0.69
- MutPred 0.35
- ClinVar: Uncertain significance
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available