T811M (p.Thr811Met) variant of ABCC6 (O95255)
T811M (p.Thr811Met) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite. 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.
T811M (p.Thr811Met) variant details
- p.Thr811Met
- rs72653796
- ClinGen CA7925914
- ClinVar RCV000499238
- ClinVar RCV001857042
- Pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.78
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by… (PMID 17617515)
- Cited in: Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6… (PMID 30154241)