F53S (p.Phe53Ser) variant of KIF5A (Kinesin heavy chain isoform 5A)
F53S (p.Phe53Ser) 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 0.78 / 1. The record also includes structural context.
F53S (p.Phe53Ser) variant details
- p.Phe53Ser
- rs1555177348
- ClinGen CA385492401
- ClinVar RCV000633016
- Ensembl rs1555177348
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available