E60Q (p.Glu60Gln) variant of KIF5A (Kinesin heavy chain isoform 5A)
E60Q (p.Glu60Gln) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- rs1881973323
- ClinGen CA385492593
- ClinVar RCV001093316
- Ensembl rs1881973323
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.23
- MetaLR 0.34
- MetaSVM -0.49
- PolyPhen-2 0.96
- SIFT 0.18
- EVE 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available