R68S (p.Arg68Ser) variant of PAH (Phenylalanine-4-hydroxylase)
R68S (p.Arg68Ser) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R68S (p.Arg68Ser) variant details
- p.Arg68Ser
- rs76394784
- ClinGen CA273113
- ClinVar RCV000078517
- ClinVar RCV000150091
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.90
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.03
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. (PMID 8889590)