Q18R (p.Gln18Arg) variant of WDR19 (WD repeat-containing protein 19)
Q18R (p.Gln18Arg) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- rs770324810
- ClinGen CA95676069
- ClinVar RCV002615071
- gnomAD rs770324810
- Uncertain significance
- Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.95
- CADD 15.10
- ClinVar: Uncertain significance (Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available