T416K (p.Thr416Lys) variant of ABCD1 (P33897)
T416K (p.Thr416Lys) 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 0.85 / 1. The record also includes published literature and structural context.
T416K (p.Thr416Lys) variant details
- p.Thr416Lys
- rs2091749844
- ClinGen CA415106037
- ClinVar RCV001962277
- Ensembl rs2091749844
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.52
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)