G77D (p.Gly77Asp) variant of KIF5A (Kinesin heavy chain isoform 5A)
G77D (p.Gly77Asp) 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 0.85 / 1. The record also includes structural context.
G77D (p.Gly77Asp) variant details
- p.Gly77Asp
- rs1060502525
- ClinGen CA16613830
- ClinVar RCV000460120
- Ensembl rs1060502525
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available