K161T (p.Lys161Thr) variant of KIF1A (Kinesin-like protein KIF1A)
K161T (p.Lys161Thr) 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 0.78 / 1. The record also includes published literature.
K161T (p.Lys161Thr) variant details
- p.Lys161Thr
- rs1011045689
- ClinGen CA351306645
- ClinVar RCV002750718
- ClinVar RCV002774781
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.90
- MetaLR 0.82
- MetaSVM 0.84
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)