D28E (p.Asp28Glu) variant of KIF5A (Kinesin heavy chain isoform 5A)
D28E (p.Asp28Glu) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D28E (p.Asp28Glu) variant details
- p.Asp28Glu
- cosmic curated COSV54059
- TOPMed rs1161092929
- gnomAD rs1161092929
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Spastic paraplegia)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available