E1400K (p.Glu1400Lys) variant of ABCC6 (O95255)
E1400K (p.Glu1400Lys) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive ABCC6-related disorders; Autosomal recessive inherited pseud. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E1400K (p.Glu1400Lys) variant details
- p.Glu1400Lys
- rs63751241
- ClinGen CA7925287
- ClinVar RCV000499034
- ClinVar RCV001857051
- Pathogenic/Likely pathogenic
- Autosomal recessive ABCC6-related disorders; Autosomal recessive inherited pseud
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.64
- CADD 19.90
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive ABCC6-related disorders; Autosomal recessive)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Middle Eastern population (allele frequency 0.00022)
- 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)