S104* (p.Ser104Ter) variant of KIF1A (Kinesin-like protein KIF1A)
S104* (p.Ser104Ter) in KIF1A (Kinesin-like protein KIF1A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
S104* (p.Ser104Ter) variant details
- p.Ser104Ter
- gnomAD 2-240719776-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 15.20
- Population evidence available
- Literature evidence available