H283P (p.His283Pro) variant of ABCD1 (P33897)
H283P (p.His283Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations 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.
H283P (p.His283Pro) variant details
- p.His283Pro
- rs2148389929
- ClinGen CA415100170
- ClinVar RCV003314419
- Conflicting interpretations
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Conflicting classifications of pathogenicity (Adrenoleukodystrophy)
- UniProt: Conflicting interpretations
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)