Y74C (p.Tyr74Cys) variant of KIF1A (Kinesin-like protein KIF1A)
Y74C (p.Tyr74Cys) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
Y74C (p.Tyr74Cys) variant details
- p.Tyr74Cys
- rs2055191530
- ClinGen CA351310888
- ClinVar RCV001251236
- ClinVar RCV006557251
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.67
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Variant of uncertain significance (in SPG30A)
- UniProt: Uncertain significance (in SPG30A)
- Structural context available
- Cited in: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. (PMID 31488895)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)