E43G (p.Glu43Gly) variant of PAH (Phenylalanine-4-hydroxylase)
E43G (p.Glu43Gly) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
E43G (p.Glu43Gly) variant details
- p.Glu43Gly
- gnomAD rs1878255644
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.82
- MetaLR 0.95
- MetaSVM 1.03
- CADD 25.60
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available