T1130M (p.Thr1130Met) variant of ABCC6 (O95255)
T1130M (p.Thr1130Met) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T1130M (p.Thr1130Met) variant details
- p.Thr1130Met
- rs63750459
- ClinGen CA281571
- ClinVar RCV000006947
- ClinVar RCV000505108
- Pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.80
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Pathogenic (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Novel ABCC6 mutations in pseudoxanthoma elasticum. (PMID 15086542)
- Cited in: ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). (PMID 15459974)