E78Q (p.Glu78Gln) variant of PAH (Phenylalanine-4-hydroxylase)
E78Q (p.Glu78Gln) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
E78Q (p.Glu78Gln) variant details
- p.Glu78Gln
- rs62507326
- ClinGen CA16020754
- ClinVar RCV001093502
- Ensembl rs62507326
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.89
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.40
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)