T46M (p.Thr46Met) variant of KIF1A (Kinesin-like protein KIF1A)
T46M (p.Thr46Met) 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 Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
T46M (p.Thr46Met) variant details
- p.Thr46Met
- rs182395595
- ClinGen CA2208894
- cosmic curated COSV57493
- ClinVar RCV001143665
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.30
- CADD 24.60
- PolyPhen-2 0.60
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance (in dbSNP:rs182395595)
- UniProt: Uncertain significance (in dbSNP:rs182395595)
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)