E26K (p.Glu26Lys) variant of PAH (Phenylalanine-4-hydroxylase)
E26K (p.Glu26Lys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- TOPMed rs1878258606
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.58
- MetaLR 0.88
- MetaSVM 0.86
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available