I4T (p.Ile4Thr) variant of WDR19 (WD repeat-containing protein 19)
I4T (p.Ile4Thr) 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 0.28 / 1. The record also includes structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- rs2109740507
- ClinGen CA356630210
- ClinVar RCV001892427
- Ensembl rs2109740507
- Uncertain significance
- Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- ESM-1b 0.00
- AlphaMissense 0.55
- MetaLR 0.27
- MetaSVM -0.53
- PolyPhen-2 0.02
- 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