S36L (p.Ser36Leu) variant of PAH (Phenylalanine-4-hydroxylase)
S36L (p.Ser36Leu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
S36L (p.Ser36Leu) variant details
- p.Ser36Leu
- ExAC rs760011862
- gnomAD rs760011862
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.77
- MetaLR 0.97
- MetaSVM 1.11
- CADD 28.30
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available