T18K (p.Thr18Lys) variant of ABCD1 (P33897)
T18K (p.Thr18Lys) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T18K (p.Thr18Lys) variant details
- p.Thr18Lys
- rs1557052159
- ClinGen CA415097370
- ClinVar RCV003513784
- gnomAD rs1557052159
- Likely benign
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.52
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.97
- ClinVar: Likely benign (Adrenoleukodystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 4.1e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)