E66K (p.Glu66Lys) variant of PAH (Phenylalanine-4-hydroxylase)
E66K (p.Glu66Lys) 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 0.87 / 1. The record also includes published literature and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- rs281865454
- ClinGen CA16020744
- ClinVar RCV002260502
- Ensembl rs281865454
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)