T99M (p.Thr99Met) variant of KIF1A (Kinesin-like protein KIF1A)
T99M (p.Thr99Met) 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 PEHO syndrome; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature.
T99M (p.Thr99Met) variant details
- p.Thr99Met
- rs387906799
- ClinGen CA212601
- ClinVar RCV000023087
- ClinVar RCV000207102
- Pathogenic
- PEHO syndrome; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (PEHO syndrome; Hereditary spastic paraplegia 30; Neuropathy, her)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Cited in: Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual… (PMID 21376300)
- Cited in: KIF1A mutation in a patient with progressive neurodegeneration. (PMID 25253658)