Y28H (p.Tyr28His) variant of WDR19 (WD repeat-containing protein 19)
Y28H (p.Tyr28His) 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 Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y28H (p.Tyr28His) variant details
- p.Tyr28His
- rs924561850
- ClinGen CA95676101
- ClinVar RCV002672064
- TOPMed rs924561850
- Uncertain significance
- Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- ESM-1b 0.27
- AlphaMissense 0.23
- MetaLR 0.03
- MetaSVM -1.13
- CADD 22.90
- ClinVar: Uncertain significance (Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available