F53L (p.Phe53Leu) variant of KIF5A (Kinesin heavy chain isoform 5A)
F53L (p.Phe53Leu) 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 0.33 / 1. The record also includes population frequency data and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- 1000Genomes rs536777412
- ExAC rs536777412
- TOPMed rs536777412
- gnomAD rs536777412
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.44
- CADD 15.00
- PolyPhen-2 0.16
- SIFT 0.25
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available