T341I (p.Thr341Ile) variant of KIF1A (Kinesin-like protein KIF1A)
T341I (p.Thr341Ile) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1.
T341I (p.Thr341Ile) variant details
- p.Thr341Ile
- rs2125976621
- ClinGen CA351296667
- ClinVar RCV003482751
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance