R68G (p.Arg68Gly) variant of PAH (Phenylalanine-4-hydroxylase)
R68G (p.Arg68Gly) 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 0.95 / 1. The record also includes published literature and structural context.
R68G (p.Arg68Gly) variant details
- p.Arg68Gly
- rs199475639
- ClinGen CA229484
- ClinVar RCV000088870
- ClinVar RCV001543636
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)