D43E (p.Asp43Glu) variant of ATL1 (Atlastin-1)
D43E (p.Asp43Glu) in ATL1 (Atlastin-1) is a missense change. The available record places it in the context of Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- rs17850684
- ClinGen CA342178
- ClinVar RCV000020719
- UniProt VAR 058963
- not provided
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- AlphaMissense 0.20
- MetaLR 0.23
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.29
- EVE 0.15
- ClinVar: not provided (Hereditary spastic paraplegia 3A)
- UniProt: Not provided (in dbSNP:rs17850684)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)