S90L (p.Ser90Leu) variant of KIF5A (Kinesin heavy chain isoform 5A)
S90L (p.Ser90Leu) 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 not provided; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
S90L (p.Ser90Leu) variant details
- p.Ser90Leu
- rs1060502524
- ClinGen CA16613834
- ClinVar RCV000472975
- ClinVar RCV003227755
- Uncertain significance
- not provided; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (not provided; Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available