T81P (p.Thr81Pro) variant of PAH (Phenylalanine-4-hydroxylase)
T81P (p.Thr81Pro) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T81P (p.Thr81Pro) variant details
- p.Thr81Pro
- rs62509017
- ClinGen CA229497
- ClinVar RCV000088881
- ClinVar RCV001192889
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.74
- MetaLR 0.91
- MetaSVM 1.04
- CADD 25.60
- PolyPhen-2 0.52
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)