I39V (p.Ile39Val) variant of ATL1 (Atlastin-1)
I39V (p.Ile39Val) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- rs756464141
- ClinGen CA7180173
- ClinVar RCV002028584
- ClinVar RCV005493220
- Uncertain significance
- not provided; Inborn genetic diseases; Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.04
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Hereditary spastic parapl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)