W57* (p.Trp57Ter) variant of KIF1A (Kinesin-like protein KIF1A)
W57* (p.Trp57Ter) in KIF1A (Kinesin-like protein KIF1A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
W57* (p.Trp57Ter) variant details
- p.Trp57Ter
- rs1394063648
- gnomAD 2-240719802-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.09
- CADD 21.50
- PolyPhen-2 0.03
- SIFT 0.13
- Population evidence available
- Literature evidence available