R17H (p.Arg17His) variant of ABCD1 (P33897)
R17H (p.Arg17His) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Adrenoleukodystrophy; Inborn genetic diseases. 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.
R17H (p.Arg17His) variant details
- p.Arg17His
- rs782693577
- ClinGen CA10549901
- ClinVar RCV000707690
- ClinVar RCV001001198
- Likely benign
- not provided; Adrenoleukodystrophy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.48
- CADD 24.10
- PolyPhen-2 0.47
- SIFT 0.02
- ClinVar: Likely benign (not provided; Adrenoleukodystrophy; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)