K50E (p.Lys50Glu) variant of PAH (Phenylalanine-4-hydroxylase)
K50E (p.Lys50Glu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- rs776829633
- ClinGen CA6749041
- ClinVar RCV002303977
- ExAC rs776829633
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.62
- AlphaMissense 0.24
- MetaLR 0.91
- MetaSVM 0.87
- CADD 22.40
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)