E78K (p.Glu78Lys) variant of PAH (Phenylalanine-4-hydroxylase)
E78K (p.Glu78Lys) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E78K (p.Glu78Lys) variant details
- p.Glu78Lys
- rs62507326
- ClinGen CA229495
- cosmic curated COSV61014
- ClinVar RCV000088880
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.83
- AlphaMissense 0.89
- MetaLR 0.98
- MetaSVM 1.09
- CADD 26.40
- PolyPhen-2 0.98
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)