L107P (p.Leu107Pro) variant of ABCD1 (P33897)
L107P (p.Leu107Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L107P (p.Leu107Pro) variant details
- p.Leu107Pro
- rs1569540688
- ClinGen CA415098616
- ClinVar RCV000722143
- UniProt VAR 000028
- Likely pathogenic
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Adrenoleukodystrophy)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Structural context available
- Cited in: Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. (PMID 8566952)
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)