M1V (p.Met1Val) variant of ABCD1 (P33897)
M1V (p.Met1Val) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2091702389
- ClinGen CA415097154
- ClinVar RCV001055844
- Pathogenic
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- MetaLR 0.69
- MetaSVM 0.24
- PolyPhen-2 0.03
- SIFT 0.02
- MutPred 0.99
- ClinVar: Pathogenic (Adrenoleukodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)