R760W (p.Arg760Trp) variant of ABCC6 (O95255)
R760W (p.Arg760Trp) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R760W (p.Arg760Trp) variant details
- p.Arg760Trp
- rs72653788
- ClinGen CA7925965
- cosmic curated COSV10608
- ClinVar RCV000499338
- Pathogenic/Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.88
- CADD 32.00
- 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:TSI 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: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by… (PMID 17617515)