P46A (p.Pro46Ala) variant of KIF5A (Kinesin heavy chain isoform 5A)
P46A (p.Pro46Ala) 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 0.41 / 1. The record also includes population frequency data and structural context.
P46A (p.Pro46Ala) variant details
- p.Pro46Ala
- rs1881971668
- ClinGen CA385492178
- ClinVar RCV002606281
- Ensembl rs1881971668
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.19
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available