D200E (p.Asp200Glu) variant of ABCD1 (P33897)
D200E (p.Asp200Glu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
D200E (p.Asp200Glu) variant details
- p.Asp200Glu
- rs782724538
- ClinGen CA415099264
- ClinVar RCV001346548
- ExAC rs782724538
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.82
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Benign (in ALD)
- UniProt: Benign (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)