A9E (p.Ala9Glu) variant of ABCC6 (O95255)
A9E (p.Ala9Glu) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- rs1555523855
- ClinGen CA395202916
- ClinVar RCV000499275
- ClinVar RCV005018854
- Uncertain significance
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.05
- CADD 7.51
- PolyPhen-2 0.07
- SIFT 0.21
- ClinVar: Uncertain significance (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. (PMID 25615550)
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)