G13A (p.Gly13Ala) variant of ATL1 (Atlastin-1)
G13A (p.Gly13Ala) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- rs2140201659
- ClinGen CA389665135
- ClinVar RCV001935161
- Ensembl rs2140201659
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.70
- PolyPhen-2 0.16
- SIFT 0.02
- MutPred 0.09
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)