L57F (p.Leu57Phe) variant of ATL1 (Atlastin-1)
L57F (p.Leu57Phe) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuropathy, hereditary sensory, type 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L57F (p.Leu57Phe) variant details
- p.Leu57Phe
- rs2039118655
- ClinGen CA389665678
- ClinVar RCV001195765
- Ensembl rs2039118655
- Uncertain significance
- Neuropathy, hereditary sensory, type 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.75
- CADD 25.30
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 1D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)