R1221H (p.Arg1221His) variant of ABCC6 (O95255)
R1221H (p.Arg1221His) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R1221H (p.Arg1221His) variant details
- p.Arg1221His
- rs63751001
- ClinGen CA7925487
- cosmic curated COSV10940
- ClinVar RCV000499367
- Pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in GACI2)
- UniProt: Pathogenic (in GACI2)
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- 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: Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1… (PMID 22209248)