N4S (p.Asn4Ser) variant of ATL1 (Atlastin-1)
N4S (p.Asn4Ser) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar 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 0.12 / 1. The record also includes population frequency data and structural context.
N4S (p.Asn4Ser) variant details
- p.Asn4Ser
- TOPMed rs1237400359
- gnomAD rs1237400359
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.07
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available