P4H (p.Pro4His) variant of ABCC6 (O95255)
P4H (p.Pro4His) 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 0.35 / 1. The record also includes published literature and structural context.
P4H (p.Pro4His) variant details
- p.Pro4His
- rs1555523872
- ClinGen CA395202972
- ClinVar RCV000499058
- UniProt VAR 072803
- Uncertain significance
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.11
- MetaLR 0.13
- MetaSVM -0.95
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. (PMID 25615550)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)