A29D (p.Ala29Asp) variant of ABCD1 (P33897)
A29D (p.Ala29Asp) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- rs2522263090
- ClinGen CA415097488
- ClinVar RCV002982398
- ClinVar RCV003138423
- Uncertain significance
- not provided; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.56
- CADD 13.50
- PolyPhen-2 0.19
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Adrenoleukodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)