H669Q (p.His669Gln) variant of ABCD1 (P33897)
H669Q (p.His669Gln) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
H669Q (p.His669Gln) variant details
- p.His669Gln
- rs2148399466
- ClinGen CA415118208
- ClinVar RCV001971138
- ClinVar RCV004753458
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.68
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)