G46R (p.Gly46Arg) variant of PAH (Phenylalanine-4-hydroxylase)
G46R (p.Gly46Arg) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- rs74603784
- ClinGen CA16020731
- ClinVar RCV000758110
- ExAC rs74603784
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.91
- MetaLR 1.00
- MetaSVM 0.93
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- 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)