I10F (p.Ile10Phe) variant of KIF5A (Kinesin heavy chain isoform 5A)
I10F (p.Ile10Phe) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
I10F (p.Ile10Phe) variant details
- p.Ile10Phe
- gnomAD 12-57550299-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.79
- CADD 29.60
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available