E60D (p.Glu60Asp) variant of KIF5A (Kinesin heavy chain isoform 5A)
E60D (p.Glu60Asp) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- NCI-TCGA Cosmic COSV5405
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.34
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available