M68R (p.Met68Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
M68R (p.Met68Arg) 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 0.32 / 1. The record also includes structural context.
M68R (p.Met68Arg) variant details
- p.Met68Arg
- rs1230201278
- ClinGen CA385492850
- ClinVar RCV002296935
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.13
- MetaLR 0.19
- MetaSVM -0.78
- PolyPhen-2 0.03
- SIFT 0.01
- EVE 0.10
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available