L710S (p.Leu710Ser) variant of WDR19 (WD repeat-containing protein 19)
L710S (p.Leu710Ser) 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 WDR19-related disorder; Connective tissue disorder; Senior-Loken syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L710S (p.Leu710Ser) variant details
- p.Leu710Ser
- rs387906980
- ClinGen CA199262
- ClinVar RCV000023681
- ClinVar RCV000169775
- Pathogenic/Likely pathogenic
- WDR19-related disorder; Connective tissue disorder; Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.88
- MetaSVM 1.00
- CADD 28.50
- ClinVar: Pathogenic/Likely pathogenic (WDR19-related disorder; Connective tissue disorder; Senior-Loken)
- EBI: Pathogenic (in CED4 and SLSN8)
- UniProt: Pathogenic (in CED4 and SLSN8)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Cited in: Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. (PMID 22019273)
- Cited in: WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa… (PMID 23683095)