T344M (p.Thr344Met) variant of KIF1A (Kinesin-like protein KIF1A)
T344M (p.Thr344Met) 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 Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature.
T344M (p.Thr344Met) variant details
- p.Thr344Met
- rs2125976585
- ClinGen CA351296627
- cosmic curated COSV10966
- ClinVar RCV002035472
- Pathogenic
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.98
- MetaLR 0.83
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)