P55R (p.Pro55Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
P55R (p.Pro55Arg) 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 0.51 / 1. The record also includes structural context.
P55R (p.Pro55Arg) variant details
- p.Pro55Arg
- rs1014548294
- ClinGen CA385492454
- ClinVar RCV003866484
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 0.40
- MetaLR 0.52
- MetaSVM -0.17
- PolyPhen-2 0.99
- SIFT 0.06
- EVE 0.33
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available