V787F (p.Val787Phe) variant of ABCC6 (O95255)
V787F (p.Val787Phe) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
V787F (p.Val787Phe) variant details
- p.Val787Phe
- rs72653792
- ClinGen CA278645265
- ClinVar RCV000499188
- ESP rs72653792
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.34
- MetaLR 0.82
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)