R1138P (p.Arg1138Pro) variant of ABCC6 (O95255)
R1138P (p.Arg1138Pro) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
R1138P (p.Arg1138Pro) variant details
- p.Arg1138Pro
- rs60791294
- ClinGen CA278631498
- ClinVar RCV000499087
- UniProt VAR 013381
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- AlphaMissense 0.16
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Structural context available
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)