I25T (p.Ile25Thr) variant of PAH (Phenylalanine-4-hydroxylase)
I25T (p.Ile25Thr) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- rs1355039694
- ClinGen CA386302749
- ClinVar RCV001980503
- TOPMed rs1355039694
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.59
- MetaLR 0.85
- MetaSVM 0.56
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)