E57K (p.Glu57Lys) variant of PAH (Phenylalanine-4-hydroxylase)
E57K (p.Glu57Lys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- rs140945592
- ClinGen CA220578
- cosmic curated COSV61017
- ClinVar RCV000078515
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.51
- AlphaMissense 0.12
- MetaLR 0.91
- MetaSVM 0.94
- CADD 25.50
- PolyPhen-2 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)