N56I (p.Asn56Ile) variant of KIF5A (Kinesin heavy chain isoform 5A)
N56I (p.Asn56Ile) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N56I (p.Asn56Ile) variant details
- p.Asn56Ile
- gnomAD 12-57563476-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.59
- CADD 26.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available