G46S (p.Gly46Ser) variant of PAH (Phenylalanine-4-hydroxylase)
G46S (p.Gly46Ser) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- rs74603784
- ClinGen CA229439
- ClinVar RCV000000661
- ClinVar RCV000088836
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.90
- MetaLR 1.00
- MetaSVM 0.95
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.06
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. (PMID 8829656)
- Cited in: Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. (PMID 8889590)