C1267Y (p.Cys1267Tyr) variant of WDR19 (WD repeat-containing protein 19)
C1267Y (p.Cys1267Tyr) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
C1267Y (p.Cys1267Tyr) variant details
- p.Cys1267Tyr
- rs745603321
- ClinGen CA2892485
- ClinVar RCV000516083
- ExAC rs745603321
- Likely pathogenic
- Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.04
- CADD 27.70
- ClinVar: Likely pathogenic (Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available