V45D (p.Val45Asp) variant of PAH (Phenylalanine-4-hydroxylase)
V45D (p.Val45Asp) 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 variant effect predictions and structural context.
V45D (p.Val45Asp) variant details
- p.Val45Asp
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61016
- Uncertain significance
- in PAH deficiency
- Missense
- MetaLR 0.96
- MetaSVM 1.08
- SIFT 0.00
- EBI: uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Structural context available