M68T (p.Met68Thr) variant of KIF5A (Kinesin heavy chain isoform 5A)
M68T (p.Met68Thr) 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 0.34 / 1. The record also includes population frequency data and structural context.
M68T (p.Met68Thr) variant details
- p.Met68Thr
- rs1230201278
- ClinGen CA385492848
- ClinVar RCV002928394
- gnomAD rs1230201278
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.18
- AlphaMissense 0.13
- MetaLR 0.19
- MetaSVM -0.78
- CADD 23.20
- PolyPhen-2 0.03
- 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