S98P (p.Ser98Pro) variant of ABCD1 (P33897)
S98P (p.Ser98Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S98P (p.Ser98Pro) variant details
- p.Ser98Pro
- rs2522264638
- ClinGen CA415098555
- ClinVar RCV003513707
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.90
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance (in ALD)
- UniProt: Uncertain significance (in ALD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)