T204N (p.Thr204Asn) variant of KIF1A (Kinesin-like protein KIF1A)
T204N (p.Thr204Asn) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature.
T204N (p.Thr204Asn) variant details
- p.Thr204Asn
- rs2126062797
- ClinGen CA351305036
- ClinVar RCV002360264
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.97
- MetaLR 0.51
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)