Q556H (p.Gln556His) variant of ABCD1 (P33897)
Q556H (p.Gln556His) 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 0.96 / 1. The record also includes published literature and structural context.
Q556H (p.Gln556His) variant details
- p.Gln556His
- rs2091764450
- ClinGen CA415112571
- ClinVar RCV001247886
- Ensembl rs2091764450
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance (in ALD)
- UniProt: Uncertain significance (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)