E1245D (p.Glu1245Asp) variant of ABCC6 (O95255)
E1245D (p.Glu1245Asp) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E1245D (p.Glu1245Asp) variant details
- p.Glu1245Asp
- rs281865557
- ClinGen CA7925475
- ClinVar RCV000499284
- ClinVar RCV004696922
- Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.82
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum; not prov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)