P89S (p.Pro89Ser) variant of PAH (Phenylalanine-4-hydroxylase)
P89S (p.Pro89Ser) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P89S (p.Pro89Ser) variant details
- p.Pro89Ser
- rs62507270
- ClinGen CA229501
- cosmic curated COSV10512
- ClinVar RCV000088886
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.47
- MetaLR 0.84
- MetaSVM 0.53
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.66
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)