A61V (p.Ala61Val) variant of ATL1 (Atlastin-1)
A61V (p.Ala61Val) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- rs1207501733
- ClinGen CA389665730
- ClinVar RCV002636166
- ClinVar RCV005281206
- Uncertain significance
- Hereditary spastic paraplegia 3A; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.11
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)