T63P (p.Thr63Pro) variant of PAH (Phenylalanine-4-hydroxylase)
T63P (p.Thr63Pro) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T63P (p.Thr63Pro) variant details
- p.Thr63Pro
- rs199475568
- ClinGen CA229473
- ClinVar RCV000088861
- ClinVar RCV000758120
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.77
- MetaLR 0.98
- MetaSVM 1.12
- CADD 25.20
- PolyPhen-2 0.93
- SIFT 0.09
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)