R51G (p.Arg51Gly) variant of KIF5A (Kinesin heavy chain isoform 5A)
R51G (p.Arg51Gly) 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 0.57 / 1. The record also includes structural context.
R51G (p.Arg51Gly) variant details
- p.Arg51Gly
- rs769763596
- ClinGen CA385492338
- ClinVar RCV002000482
- ExAC rs769763596
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 0.14
- MetaLR 0.64
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available