A594V (p.Ala594Val) variant of ABCC6 (O95255)
A594V (p.Ala594Val) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A594V (p.Ala594Val) variant details
- p.Ala594Val
- rs72653776
- ClinGen CA278651863
- ClinVar RCV000499358
- UniProt VAR 067861
- Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.84
- CADD 26.30
- PolyPhen-2 0.69
- SIFT 0.04
- ClinVar: Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- 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)