A30P (p.Ala30Pro) variant of WDR19 (WD repeat-containing protein 19)
A30P (p.Ala30Pro) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SLSN8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- rs776967770
- UniProt VAR 073673
- ExAC rs776967770
- gnomAD rs776967770
- Pathogenic
- in SLSN8
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.11
- MetaSVM -0.87
- CADD 26.60
- EBI: Pathogenic (in SLSN8)
- UniProt: Pathogenic (in SLSN8)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- 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)