S23R (p.Ser23Arg) variant of PAH (Phenylalanine-4-hydroxylase)
S23R (p.Ser23Arg) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S23R (p.Ser23Arg) variant details
- p.Ser23Arg
- Ensembl rs913365395
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.62
- MetaLR 0.91
- MetaSVM 0.88
- CADD 22.20
- PolyPhen-2 0.49
- SIFT 0.42
- Population evidence available
- Structural context available