F30L (p.Phe30Leu) variant of KIF5A (Kinesin heavy chain isoform 5A)
F30L (p.Phe30Leu) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- 1000Genomes rs573410126
- ExAC rs573410126
- gnomAD rs573410126
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.46
- CADD 25.50
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available