P508H (p.Pro508His) variant of ABCD1 (P33897)
P508H (p.Pro508His) 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 0.92 / 1. The record also includes published literature and structural context.
P508H (p.Pro508His) variant details
- p.Pro508His
- rs1569541087
- ClinGen CA415111057
- ClinVar RCV000690556
- Ensembl rs1569541087
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.96
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)