R617L (p.Arg617Leu) variant of ABCD1 (P33897)
R617L (p.Arg617Leu) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R617L (p.Arg617Leu) variant details
- p.Arg617Leu
- rs11146842
- ClinGen CA415116285
- ClinVar RCV003991683
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.97
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.90
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance (in ALD)
- UniProt: Uncertain significance (in ALD)
- Population evidence available
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)