R617P (p.Arg617Pro) variant of ABCD1 (P33897)
R617P (p.Arg617Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R617P (p.Arg617Pro) variant details
- p.Arg617Pro
- rs11146842
- ClinGen CA415116281
- ClinVar RCV003139501
- ClinVar RCV005099356
- Conflicting interpretations
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Conflicting classifications of pathogenicity (not provided; Adrenoleukodystrophy)
- EBI: Likely pathogenic (in ALD)
- UniProt: Likely pathogenic (in ALD)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)