Y36D (p.Tyr36Asp) variant of WDR19 (WD repeat-containing protein 19)
Y36D (p.Tyr36Asp) 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 0.23 / 1. The record also includes population frequency data and structural context.
Y36D (p.Tyr36Asp) variant details
- p.Tyr36Asp
- rs781578023
- ClinGen CA2891539
- ClinVar RCV001238218
- ExAC rs781578023
- Uncertain significance
- Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.14
- ESM-1b 0.16
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.86
- CADD 15.80
- ClinVar: Uncertain significance (Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available