E57* (p.Glu57Ter) variant of PAH (Phenylalanine-4-hydroxylase)
E57* (p.Glu57Ter) in PAH (Phenylalanine-4-hydroxylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
E57* (p.Glu57Ter) variant details
- p.Glu57Ter
- rs140945592
- ClinGen CA267642
- ClinVar RCV000106349
- ESP rs140945592
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.12
- MetaLR 0.91
- MetaSVM 0.94
- PolyPhen-2 0.01
- SIFT 0.32
- EVE 0.10
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)