V68D (p.Val68Asp) variant of WDR19 (WD repeat-containing protein 19)
V68D (p.Val68Asp) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Senior-Loken syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
V68D (p.Val68Asp) variant details
- p.Val68Asp
- rs786204852
- ClinGen CA199263
- ClinVar RCV000169776
- UniProt VAR 073674
- Pathogenic
- Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.08
- MetaSVM -1.08
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Pathogenic (Senior-Loken syndrome 8)
- EBI: Pathogenic (in SLSN8)
- UniProt: Pathogenic (in SLSN8)
- Structural context available
- Cited in: WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa… (PMID 23683095)
- Cited in: Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. (PMID 23559409)