Y47C (p.Tyr47Cys) variant of KIF5A (Kinesin heavy chain isoform 5A)
Y47C (p.Tyr47Cys) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y47C (p.Tyr47Cys) variant details
- p.Tyr47Cys
- gnomAD 12-57563449-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.84
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available