P58H (p.Pro58His) variant of WAS (P42768)
P58H (p.Pro58His) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
P58H (p.Pro58His) variant details
- p.Pro58His
- rs132630275
- ClinGen CA16621416
- ClinVar RCV000485571
- Ensembl rs132630275
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.19
- MetaLR 0.97
- MetaSVM 1.17
- PolyPhen-2 1.00
- SIFT 0.44
- MutPred 0.86
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in THC1)
- UniProt: Pathogenic (in THC1)
- Structural context available