F5S (p.Phe5Ser) variant of WDR19 (WD repeat-containing protein 19)
F5S (p.Phe5Ser) 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 Retinal dystrophy; Spermatogenic failure 72; Asphyxiating thoracic dystrophy 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
F5S (p.Phe5Ser) variant details
- p.Phe5Ser
- rs1237494778
- ClinGen CA356630223
- ClinVar RCV000681867
- ClinVar RCV001074270
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Spermatogenic failure 72; Asphyxiating thoracic dystrophy 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.74
- MetaLR 0.41
- MetaSVM -0.02
- CADD 27.50
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Spermatogenic failure 72; Asphyxiating thorac)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Cited in: Cranioectodermal Dysplasia. (PMID 24027799)
- Cited in: Nephronophthisis-Related Ciliopathies. (PMID 27336129)