N9S (p.Asn9Ser) variant of ATL1 (Atlastin-1)
N9S (p.Asn9Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N9S (p.Asn9Ser) variant details
- p.Asn9Ser
- rs767429611
- ClinGen CA7180145
- ClinVar RCV003821896
- ExAC rs767429611
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.12
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)