T301I (p.Thr301Ile) variant of KIF1A (Kinesin-like protein KIF1A)
T301I (p.Thr301Ile) 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; Hereditary spastic paraplegia 30; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
T301I (p.Thr301Ile) variant details
- p.Thr301Ile
- rs2537996681
- ClinGen CA351297860
- ClinVar RCV003786981
- ClinVar RCV006272528
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.18
- CADD 24.40
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)