R1114P (p.Arg1114Pro) variant of ABCC6 (O95255)
R1114P (p.Arg1114Pro) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; ABCC6-related disorder; Autosomal recessive inherited pseudoxantho. 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.
R1114P (p.Arg1114Pro) variant details
- p.Arg1114Pro
- rs63750427
- ClinGen CA281567
- ClinVar RCV000006940
- ClinVar RCV002512858
- Pathogenic
- not provided; ABCC6-related disorder; Autosomal recessive inherited pseudoxantho
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; ABCC6-related disorder; Autosomal recessive inheri)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- Cited in: Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. (PMID 10835642)
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)