A2E (p.Ala2Glu) variant of KIF5A (Kinesin heavy chain isoform 5A)
A2E (p.Ala2Glu) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- ExAC rs780433858
- TOPMed rs780433858
- gnomAD rs780433858
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.35
- CADD 25.80
- PolyPhen-2 0.67
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available