R71C (p.Arg71Cys) variant of PAH (Phenylalanine-4-hydroxylase)
R71C (p.Arg71Cys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R71C (p.Arg71Cys) variant details
- p.Arg71Cys
- rs866012140
- ClinGen CA16020748
- cosmic curated COSV61017
- ClinVar RCV003058394
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.73
- MetaLR 0.98
- MetaSVM 1.06
- CADD 27.10
- PolyPhen-2 0.83
- SIFT 0.02
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)