N13T (p.Asn13Thr) variant of ABCD1 (P33897)
N13T (p.Asn13Thr) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not specified; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N13T (p.Asn13Thr) variant details
- p.Asn13Thr
- rs183021839
- ClinGen CA10549898
- ClinVar RCV000377597
- ClinVar RCV001000486
- Benign/Likely benign
- Inborn genetic diseases; not specified; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.26
- CADD 0.63
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; Adrenoleukodystrophy)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:FIN population (allele frequency 0.013)
- Structural context available
- Cited in: Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first… (PMID 11438993)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)