H97R (p.His97Arg) variant of ABCD1 (P33897)
H97R (p.His97Arg) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
H97R (p.His97Arg) variant details
- p.His97Arg
- rs2091705296
- ClinGen CA415098551
- ClinVar RCV002009827
- ClinVar RCV004753460
- Pathogenic/Likely pathogenic
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Adrenoleukodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)