K533N (p.Lys533Asn) variant of ABCD1 (P33897)
K533N (p.Lys533Asn) 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 0.47 / 1. The record also includes published literature and structural context.
K533N (p.Lys533Asn) variant details
- p.Lys533Asn
- rs1569541092
- ClinGen CA415111758
- ClinVar RCV000696719
- Ensembl rs1569541092
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.99
- MetaLR 0.35
- MetaSVM -0.50
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.50
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Adrenoleukodystrophy. (PMID 20301491)
- Cited in: Clinical utility gene card for: adrenoleukodystrophy. (PMID 22071894)