M87I (p.Met87Ile) variant of ATL1 (Atlastin-1)
M87I (p.Met87Ile) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M87I (p.Met87Ile) variant details
- p.Met87Ile
- rs759633651
- ClinGen CA7180187
- ClinVar RCV002929060
- ClinVar RCV003274099
- Uncertain significance
- Hereditary spastic paraplegia 3A; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)