E16Q (p.Glu16Gln) variant of ATL1 (Atlastin-1)
E16Q (p.Glu16Gln) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- rs1223717112
- ClinGen CA389665151
- ClinVar RCV000647930
- ClinVar RCV005231229
- Uncertain significance
- not provided; Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Hereditary spastic paraplegia 3A)
- 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)