G43A (p.Gly43Ala) variant of KIF5A (Kinesin heavy chain isoform 5A)
G43A (p.Gly43Ala) 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 not provided; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- rs1800918984
- ClinGen CA385496450
- ClinVar RCV003868423
- ClinVar RCV005256935
- Uncertain significance
- not provided; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.10
- MetaLR 0.29
- MetaSVM -0.63
- PolyPhen-2 0.00
- SIFT 0.42
- EVE 0.11
- ClinVar: Uncertain significance (not provided; Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available