P55A (p.Pro55Ala) variant of KIF5A (Kinesin heavy chain isoform 5A)
P55A (p.Pro55Ala) 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 population frequency data and structural context.
P55A (p.Pro55Ala) variant details
- p.Pro55Ala
- rs1169287923
- ClinGen CA385492447
- ClinVar RCV003751514
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.33
- CADD 23.60
- PolyPhen-2 0.57
- SIFT 0.05
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available