Y89D (p.Tyr89Asp) variant of KIF1A (Kinesin-like protein KIF1A)
Y89D (p.Tyr89Asp) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Intellectual disability, autosomal dominant 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
Y89D (p.Tyr89Asp) variant details
- p.Tyr89Asp
- rs869312711
- ClinGen CA353415
- ClinVar RCV000209842
- UniProt VAR 086847
- Pathogenic
- Intellectual disability, autosomal dominant 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Intellectual disability, autosomal dominant 9)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Structural context available
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)