D85G (p.Asp85Gly) variant of ATL1 (Atlastin-1)
D85G (p.Asp85Gly) 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 0.72 / 1. The record also includes published literature and structural context.
D85G (p.Asp85Gly) variant details
- p.Asp85Gly
- rs2140201974
- ClinGen CA389666020
- ClinVar RCV001987055
- Ensembl rs2140201974
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.94
- MetaLR 0.68
- MetaSVM 0.52
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.66
- 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)