G19R (p.Gly19Arg) variant of PAH (Phenylalanine-4-hydroxylase)
G19R (p.Gly19Arg) 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 0.53 / 1. The record also includes population frequency data and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- ExAC rs771104344
- TOPMed rs771104344
- gnomAD rs771104344
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.59
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available