G27R (p.Gly27Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
G27R (p.Gly27Arg) 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 Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- rs2540481413
- ClinGen CA385496078
- ClinVar RCV002303259
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.48
- CADD 29.10
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available