E66K (p.Glu66Lys) variant of ATL1 (Atlastin-1)
E66K (p.Glu66Lys) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- rs200314808
- ClinGen CA389665780
- ClinVar RCV001341383
- ESP rs200314808
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.23
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A)
- EBI: Pathogenic (in HSN1D)
- UniProt: Pathogenic (in HSN1D)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)