K50* (p.Lys50Ter) variant of PAH (Phenylalanine-4-hydroxylase)
K50* (p.Lys50Ter) in PAH (Phenylalanine-4-hydroxylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
K50* (p.Lys50Ter) variant details
- p.Lys50Ter
- rs776829633
- ClinGen CA386302322
- ClinVar RCV002306556
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.592
- AlphaMissense 0.24
- MetaLR 0.91
- MetaSVM 0.87
- PolyPhen-2 0.00
- SIFT 0.21
- EVE 0.09
- 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)