R53C (p.Arg53Cys) variant of PAH (Phenylalanine-4-hydroxylase)
R53C (p.Arg53Cys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- rs199475619
- ClinGen CA229445
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61017
- Likely pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.77
- AlphaMissense 0.51
- MetaLR 0.87
- MetaSVM 0.71
- CADD 24.30
- PolyPhen-2 0.02
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)