E66Q (p.Glu66Gln) variant of ATL1 (Atlastin-1)
E66Q (p.Glu66Gln) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Hereditary spastic paraplegia 3A; not provided. 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.
E66Q (p.Glu66Gln) variant details
- p.Glu66Gln
- rs200314808
- ClinGen CA129352
- ClinVar RCV000023543
- ClinVar RCV000236565
- Conflicting interpretations
- Inborn genetic diseases; Hereditary spastic paraplegia 3A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hereditary spastic paraplegia 3A; not p)
- EBI: Pathogenic (in HSN1D)
- UniProt: Pathogenic (in HSN1D)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type… (PMID 21194679)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)