R1235W (p.Arg1235Trp) variant of ABCC6 (O95255)
R1235W (p.Arg1235Trp) 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 inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R1235W (p.Arg1235Trp) variant details
- p.Arg1235Trp
- rs63750402
- ClinGen CA7925480
- NCI-TCGA Cosmic COSV5274
- cosmic curated COSV52745
- Pathogenic/Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxa)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. (PMID 16086317)
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)