L355R (p.Leu355Arg) variant of ABCC6 (O95255)
L355R (p.Leu355Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L355R (p.Leu355Arg) variant details
- p.Leu355Arg
- rs72653758
- ClinGen CA7926473
- ClinVar RCV000499048
- UniProt VAR 067846
- Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.84
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in GACI2 and PXE)
- UniProt: Pathogenic (in GACI2 and PXE)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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 and pseudoxanthoma elasticum can be caused by mutations in either ENPP1… (PMID 22209248)