S16F (p.Ser16Phe) variant of PAH (Phenylalanine-4-hydroxylase)
S16F (p.Ser16Phe) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PAH deficiency. The record also includes structural context.
S16F (p.Ser16Phe) variant details
- p.Ser16Phe
- NCI-TCGA Cosmic COSV1001
- Ensembl rs1592991188
- Uncertain significance
- in PAH deficiency
- Missense
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Structural context available