A68T (p.Ala68Thr) variant of KIF1A (Kinesin-like protein KIF1A)
A68T (p.Ala68Thr) 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; Intellectual disability, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- rs761950783
- ClinGen CA2208853
- ClinVar RCV001204886
- ClinVar RCV002418679
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.70
- CADD 25.50
- PolyPhen-2 0.81
- SIFT 0.02
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- 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)