S15L (p.Ser15Leu) variant of ATL1 (Atlastin-1)
S15L (p.Ser15Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S15L (p.Ser15Leu) variant details
- p.Ser15Leu
- rs772206990
- ClinGen CA7180163
- NCI-TCGA Cosmic COSV6329
- cosmic curated COSV63296
- Conflicting interpretations
- Inborn genetic diseases; Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.08
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hereditary spastic paraplegia 3A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)