I65T (p.Ile65Thr) variant of PAH (Phenylalanine-4-hydroxylase)
I65T (p.Ile65Thr) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- rs75193786
- ClinGen CA251544
- ClinVar RCV000000668
- ClinVar RCV000078516
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- CADD 27.20
- PolyPhen-2 1.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the REMAINING population (allele frequency 0.0006)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. (PMID 12501224)