T658A (p.Thr658Ala) variant of ABCD1 (P33897)
T658A (p.Thr658Ala) 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 0.80 / 1. The record also includes published literature and structural context.
T658A (p.Thr658Ala) variant details
- p.Thr658Ala
- rs2148399309
- ClinGen CA415117751
- ClinVar RCV002010843
- Ensembl rs2148399309
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.86
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.29
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)