A90S (p.Ala90Ser) variant of PAH (Phenylalanine-4-hydroxylase)
A90S (p.Ala90Ser) 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 variant effect predictions and structural context.
A90S (p.Ala90Ser) variant details
- p.Ala90Ser
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10018
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.89
- MetaSVM 0.65
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available