S262L (p.Ser262Leu) variant of ABCD1 (P33897)
S262L (p.Ser262Leu) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adrenoleukodystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
S262L (p.Ser262Leu) variant details
- p.Ser262Leu
- rs1204814114
- ClinGen CA415099931
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54384
- Conflicting interpretations
- Adrenoleukodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.94
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)