E78V (p.Glu78Val) variant of PAH (Phenylalanine-4-hydroxylase)
E78V (p.Glu78Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E78V (p.Glu78Val) variant details
- p.Glu78Val
- rs1877431301
- ClinGen CA16020755
- ClinVar RCV001093503
- Ensembl rs1877431301
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.82
- MetaLR 0.95
- MetaSVM 1.14
- CADD 28.60
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)