A4E (p.Ala4Glu) variant of PAH (Phenylalanine-4-hydroxylase)
A4E (p.Ala4Glu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.60
- CADD 2.24
- PolyPhen-2 0.01
- SIFT 0.89
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available