A914D (p.Ala914Asp) variant of WDR19 (WD repeat-containing protein 19)
A914D (p.Ala914Asp) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Senior-Loken syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A914D (p.Ala914Asp) variant details
- p.Ala914Asp
- rs766616967
- ClinGen CA2892185
- ClinVar RCV001281116
- ClinVar RCV001290088
- Likely pathogenic
- Senior-Loken syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- CADD 26.90
- ClinVar: Likely pathogenic (Senior-Loken syndrome 8)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association. (PMID 33002628)