S59L (p.Ser59Leu) variant of ATL1 (Atlastin-1)
S59L (p.Ser59Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S59L (p.Ser59Leu) variant details
- p.Ser59Leu
- rs1278783412
- ClinGen CA389665703
- NCI-TCGA Cosmic COSV6329
- cosmic curated COSV63296
- Uncertain significance
- Hereditary spastic paraplegia 3A; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.14
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)