T341P (p.Thr341Pro) variant of KIF1A (Kinesin-like protein KIF1A)
T341P (p.Thr341Pro) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spastic paraplegia 30. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1.
T341P (p.Thr341Pro) variant details
- p.Thr341Pro
- rs2052419658
- ClinGen CA351296671
- ClinVar RCV003320401
- Likely pathogenic
- Hereditary spastic paraplegia 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 30)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic