T263K (p.Thr263Lys) variant of KIF1A (Kinesin-like protein KIF1A)
T263K (p.Thr263Lys) 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 0.45 / 1. The record also includes published literature.
T263K (p.Thr263Lys) variant details
- p.Thr263Lys
- rs868837727
- ClinGen CA351302903
- ClinVar RCV003805539
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.73
- MetaLR 0.44
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.11
- EVE 0.22
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)