D42V (p.Asp42Val) variant of ATL1 (Atlastin-1)
D42V (p.Asp42Val) 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 0.36 / 1. The record also includes published literature and structural context.
D42V (p.Asp42Val) variant details
- p.Asp42Val
- rs2140201784
- ClinGen CA389665474
- ClinVar RCV001366952
- Ensembl rs2140201784
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.34
- MetaLR 0.14
- MetaSVM -0.92
- PolyPhen-2 0.10
- SIFT 0.09
- EVE 0.34
- 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)