W11C (p.Trp11Cys) variant of ATL1 (Atlastin-1)
W11C (p.Trp11Cys) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
W11C (p.Trp11Cys) variant details
- p.Trp11Cys
- rs765421231
- ClinGen CA7180148
- ClinVar RCV001935822
- ClinVar RCV002458798
- Uncertain significance
- Inborn genetic diseases; Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.30
- CADD 32.00
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary spastic paraplegia 3A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)