P89T (p.Pro89Thr) variant of PAH (Phenylalanine-4-hydroxylase)
P89T (p.Pro89Thr) 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.
P89T (p.Pro89Thr) variant details
- p.Pro89Thr
- rs62507270
- ClinGen CA242509800
- cosmic curated COSV10018
- ClinVar RCV003598634
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.46
- MetaLR 0.88
- MetaSVM 0.63
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)