D49E (p.Asp49Glu) variant of ATL1 (Atlastin-1)
D49E (p.Asp49Glu) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
D49E (p.Asp49Glu) variant details
- p.Asp49Glu
- rs2039118339
- ClinGen CA389665580
- ClinVar RCV003287791
- TOPMed rs2039118339
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.36
- MetaLR 0.32
- MetaSVM -0.64
- PolyPhen-2 0.04
- SIFT 0.10
- EVE 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)