I94T (p.Ile94Thr) variant of PAH (Phenylalanine-4-hydroxylase)
I94T (p.Ile94Thr) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in PAH deficiency. The record also includes variant effect predictions and structural context.
I94T (p.Ile94Thr) variant details
- p.Ile94Thr
- NCI-TCGA Cosmic COSV6102
- cosmic curated COSV61020
- Variant assessed as somatic; moderate impact.
- in PAH deficiency
- Missense
- MetaLR 0.92
- MetaSVM 0.96
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact. (in PAH deficiency)
- Structural context available