T18M (p.Thr18Met) variant of ABCD1 (P33897)
T18M (p.Thr18Met) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T18M (p.Thr18Met) variant details
- p.Thr18Met
- rs1557052159
- ClinGen CA415097372
- ClinVar RCV002273600
- gnomAD rs1557052159
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.42
- CADD 15.50
- PolyPhen-2 0.13
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available