T668P (p.Thr668Pro) variant of ABCD1 (P33897)
T668P (p.Thr668Pro) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T668P (p.Thr668Pro) variant details
- p.Thr668Pro
- rs1603236086
- ClinGen CA415118162
- ClinVar RCV000850157
- Ensembl rs1603236086
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.89
- AlphaMissense 0.49
- MetaLR 0.98
- MetaSVM 1.17
- CADD 26.30
- PolyPhen-2 0.76
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance (in ALD)
- UniProt: Uncertain significance (in ALD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)