Q20R (p.Gln20Arg) variant of PAH (Phenylalanine-4-hydroxylase)
Q20R (p.Gln20Arg) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- gnomAD rs199475662
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.63
- AlphaMissense 0.08
- MetaLR 0.83
- MetaSVM 0.45
- CADD 22.80
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available