V45F (p.Val45Phe) variant of PAH (Phenylalanine-4-hydroxylase)
V45F (p.Val45Phe) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V45F (p.Val45Phe) variant details
- p.Val45Phe
- rs1878255139
- ClinGen CA386302394
- ClinVar RCV001247948
- Ensembl rs1878255139
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.88
- MetaLR 0.97
- MetaSVM 1.08
- CADD 25.00
- PolyPhen-2 0.92
- SIFT 0.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)