K14R (p.Lys14Arg) variant of PAH (Phenylalanine-4-hydroxylase)
K14R (p.Lys14Arg) 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.
K14R (p.Lys14Arg) variant details
- p.Lys14Arg
- NCI-TCGA Cosmic COSV1001
- Variant assessed as somatic; moderate impact.
- Missense
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available