E1235K (p.Glu1235Lys) variant of WDR19 (WD repeat-containing protein 19)
E1235K (p.Glu1235Lys) 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; Asphyxiating thoracic dystrophy 5; Nephronophthisis 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E1235K (p.Glu1235Lys) variant details
- p.Glu1235Lys
- rs587777351
- ClinGen CA151410
- NCI-TCGA Cosmic COSV9997
- ClinVar RCV000115013
- Pathogenic/Likely pathogenic
- Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5; Nephronophthisis 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.68
- MetaSVM 0.49
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5; Neph)
- EBI: Pathogenic (in SLSN8)
- UniProt: Pathogenic (in SLSN8)
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Cited in: Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. (PMID 23559409)
- Cited in: Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of… (PMID 25726036)