I65L (p.Ile65Leu) variant of PAH (Phenylalanine-4-hydroxylase)
I65L (p.Ile65Leu) 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 structural context.
I65L (p.Ile65Leu) variant details
- p.Ile65Leu
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10018
- Variant assessed as somatic; moderate impact.
- in PAH deficiency
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in PAH deficiency)
- Structural context available