R99G (p.Arg99Gly) variant of PAH (Phenylalanine-4-hydroxylase)
R99G (p.Arg99Gly) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
R99G (p.Arg99Gly) variant details
- p.Arg99Gly
- rs2136701651
- ClinGen CA386304039
- ClinVar RCV001975307
- Ensembl rs2136701651
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.34
- MetaLR 0.94
- MetaSVM 0.98
- PolyPhen-2 0.10
- SIFT 0.09
- EVE 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)