T92I (p.Thr92Ile) variant of PAH (Phenylalanine-4-hydroxylase)
T92I (p.Thr92Ile) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T92I (p.Thr92Ile) variant details
- p.Thr92Ile
- rs62514903
- ClinGen CA229504
- ClinVar RCV000088888
- ClinVar RCV001854512
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.60
- MetaLR 0.83
- MetaSVM 0.37
- CADD 7.87
- PolyPhen-2 0.01
- SIFT 0.24
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general… (PMID 9634518)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)