Q22P (p.Gln22Pro) variant of WDR19 (WD repeat-containing protein 19)
Q22P (p.Gln22Pro) 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 0.58 / 1. The record also includes structural context.
Q22P (p.Gln22Pro) variant details
- p.Gln22Pro
- rs2109740775
- ClinGen CA356630438
- ClinVar RCV001955287
- Ensembl rs2109740775
- Uncertain significance
- Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available