E44K (p.Glu44Lys) variant of PAH (Phenylalanine-4-hydroxylase)
E44K (p.Glu44Lys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10018
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available