N9K (p.Asn9Lys) variant of ATL1 (Atlastin-1)
N9K (p.Asn9Lys) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N9K (p.Asn9Lys) variant details
- p.Asn9Lys
- rs752593199
- ClinGen CA7180146
- ClinVar RCV000647933
- ClinVar RCV002440339
- Conflicting interpretations
- not provided; Inborn genetic diseases; Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.05
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Hereditary spastic parapl)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)