I478M (p.Ile478Met) variant of WDR19 (WD repeat-containing protein 19)
I478M (p.Ile478Met) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Senior-Loken syndrome 8; Cranioectodermal dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
I478M (p.Ile478Met) variant details
- p.Ile478Met
- rs886039814
- ClinGen CA10588960
- ClinVar RCV000256446
- ClinVar RCV000985142
- Pathogenic/Likely pathogenic
- Senior-Loken syndrome 8; Cranioectodermal dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.17
- MetaSVM -0.82
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Senior-Loken syndrome 8; Cranioectodermal dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cranioectodermal Dysplasia. (PMID 24027799)