G608D (p.Gly608Asp) variant of ABCD1 (P33897)
G608D (p.Gly608Asp) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G608D (p.Gly608Asp) variant details
- p.Gly608Asp
- rs78993751
- ClinGen CA249262
- ClinVar RCV000203059
- ClinVar RCV000990979
- Conflicting interpretations
- not specified; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.09
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Adrenoleukodystrophy)
- EBI: Likely pathogenic (in ALD)
- UniProt: Likely pathogenic (in ALD)
- Population evidence available
- Structural context available
- Cited in: Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first… (PMID 11438993)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)