I31M (p.Ile31Met) variant of KIF5A (Kinesin heavy chain isoform 5A)
I31M (p.Ile31Met) 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 0.27 / 1. The record also includes population frequency data and structural context.
I31M (p.Ile31Met) variant details
- p.Ile31Met
- TOPMed rs923503057
- gnomAD rs923503057
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.20
- CADD 22.20
- PolyPhen-2 0.18
- SIFT 0.03
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available