K74N (p.Lys74Asn) variant of PAH (Phenylalanine-4-hydroxylase)
K74N (p.Lys74Asn) 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.
K74N (p.Lys74Asn) variant details
- p.Lys74Asn
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61013
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.92
- MetaSVM 1.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available