E24Q (p.Glu24Gln) variant of ATL1 (Atlastin-1)
E24Q (p.Glu24Gln) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary spastic paraplegia 3A; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- rs763169900
- ClinGen CA7180168
- ClinVar RCV003079042
- ClinVar RCV003079043
- Conflicting interpretations
- Hereditary spastic paraplegia 3A; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.28
- CADD 24.50
- PolyPhen-2 0.93
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia 3A; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)