S606P (p.Ser606Pro) variant of ABCD1 (P33897)
S606P (p.Ser606Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
S606P (p.Ser606Pro) variant details
- p.Ser606Pro
- rs201774661
- ClinGen CA249048
- NCI-TCGA Cosmic COSV5438
- ClinVar RCV000202845
- Conflicting interpretations
- not specified; Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.91
- ClinVar: Conflicting classifications of pathogenicity (not specified; Adrenoleukodystrophy)
- EBI: Likely benign (in ALD)
- UniProt: Likely benign (in ALD)
- Population evidence available
- Structural context available
- Cited in: X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. (PMID 21700483)
- Cited in: Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy. (PMID 21889498)