V1298F (p.Val1298Phe) variant of ABCC6 (O95255)
V1298F (p.Val1298Phe) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V1298F (p.Val1298Phe) variant details
- p.Val1298Phe
- rs63751325
- ClinGen CA281581
- ClinVar RCV000006956
- UniProt VAR 013384
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.89
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)
- Cited in: Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). (PMID 11880368)