R53G (p.Arg53Gly) variant of PAH (Phenylalanine-4-hydroxylase)
R53G (p.Arg53Gly) 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 0.62 / 1. The record also includes structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- rs199475619
- ClinVar RCV004586231
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.51
- MetaLR 0.87
- MetaSVM 0.71
- PolyPhen-2 0.02
- SIFT 0.09
- EVE 0.11
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Structural context available