I31T (p.Ile31Thr) variant of KIF5A (Kinesin heavy chain isoform 5A)
I31T (p.Ile31Thr) 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 0.53 / 1. The record also includes population frequency data and structural context.
I31T (p.Ile31Thr) variant details
- p.Ile31Thr
- rs199955108
- ClinGen CA6652497
- ClinVar RCV003589161
- ExAC rs199955108
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.44
- CADD 28.50
- PolyPhen-2 0.72
- SIFT 0.04
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available