R1339L (p.Arg1339Leu) variant of ABCC6 (O95255)
R1339L (p.Arg1339Leu) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive inherited 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.
R1339L (p.Arg1339Leu) variant details
- p.Arg1339Leu
- rs63750622
- ClinGen CA278625337
- cosmic curated COSV52748
- ClinVar RCV000499300
- Uncertain significance
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. (PMID 16086317)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)