R3H (p.Arg3His) variant of WDR19 (WD repeat-containing protein 19)
R3H (p.Arg3His) 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 Spermatogenic failure 72; Cranioectodermal dysplasia 4; Asphyxiating thoracic dy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- rs922584346
- ClinGen CA356630198
- ClinVar RCV001348781
- ClinVar RCV002476606
- Uncertain significance
- Spermatogenic failure 72; Cranioectodermal dysplasia 4; Asphyxiating thoracic dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.35
- MetaSVM -0.49
- CADD 32.00
- ClinVar: Uncertain significance (Spermatogenic failure 72; Cranioectodermal dysplasia 4; Asphyxia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Cranioectodermal Dysplasia. (PMID 24027799)
- Cited in: Nephronophthisis-Related Ciliopathies. (PMID 27336129)