T187I (p.Thr187Ile) variant of KIF1A (Kinesin-like protein KIF1A)
T187I (p.Thr187Ile) 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; not specified; Hereditary spastic paraplegia 30. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
T187I (p.Thr187Ile) variant details
- p.Thr187Ile
- rs370623844
- ClinGen CA2208750
- ClinVar RCV000502672
- ClinVar RCV001066424
- Uncertain significance
- Inborn genetic diseases; not specified; Hereditary spastic paraplegia 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.54
- CADD 24.30
- PolyPhen-2 0.44
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; Hereditary spastic parap)
- EBI: Variant of uncertain significance (in dbSNP:rs370623844)
- UniProt: Uncertain significance (in dbSNP:rs370623844)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)