S108L (p.Ser108Leu) variant of ABCD1 (P33897)
S108L (p.Ser108Leu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adrenoleukodystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S108L (p.Ser108Leu) variant details
- p.Ser108Leu
- rs2091705631
- ClinGen CA415098621
- ClinVar RCV001290134
- ClinVar RCV002245946
- Pathogenic/Likely pathogenic
- Adrenoleukodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.97
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Adrenoleukodystrophy; not provided)
- EBI: Pathogenic (in ALD)
- UniProt: Pathogenic (in ALD)
- Population evidence available
- Structural context available
- Cited in: Two novel missense mutations causing adrenoleukodystrophy in Italian patients. (PMID 10369742)
- Cited in: Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy… (PMID 20661612)