T57M (p.Thr57Met) variant of KIF5A (Kinesin heavy chain isoform 5A)
T57M (p.Thr57Met) 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 0.63 / 1. The record also includes population frequency data and structural context.
T57M (p.Thr57Met) variant details
- p.Thr57Met
- rs759785671
- ClinGen CA6652523
- ClinVar RCV001997821
- ExAC rs759785671
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.52
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available