S1307P (p.Ser1307Pro) variant of ABCC6 (O95255)
S1307P (p.Ser1307Pro) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S1307P (p.Ser1307Pro) variant details
- p.Ser1307Pro
- rs63751318
- ClinGen CA278625550
- ClinVar RCV000499015
- Ensembl rs63751318
- Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.87
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)