C92Y (p.Cys92Tyr) variant of KIF1A (Kinesin-like protein KIF1A)
C92Y (p.Cys92Tyr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C92Y (p.Cys92Tyr) variant details
- p.Cys92Tyr
- rs2538437439
- ClinGen CA351310429
- ClinVar RCV003327077
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.87
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Population evidence available
- Structural context available