T811R (p.Thr811Arg) variant of ABCC6 (O95255)
T811R (p.Thr811Arg) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T811R (p.Thr811Arg) variant details
- p.Thr811Arg
- rs72653796
- ClinGen CA7925915
- ClinVar RCV000499278
- ExAC rs72653796
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.78
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)