P569R (p.Pro569Arg) variant of LBR (Delta(14)-sterol reductase LBR)
P569R (p.Pro569Arg) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pelger-Huët anomaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
P569R (p.Pro569Arg) variant details
- p.Pro569Arg
- rs137852606
- ClinGen CA120514
- ClinVar RCV000010140
- UniProt VAR 017842
- Pathogenic
- Pelger-Huët anomaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pelger-Huët anomaly)
- EBI: Pathogenic (in PHA)
- UniProt: Pathogenic (in PHA)
- Structural context available
- Cited in: Lamin B-receptor mutations in Pelger-Huët anomaly. (PMID 14617022)