I95L (p.Ile95Leu) variant of PAH (Phenylalanine-4-hydroxylase)
I95L (p.Ile95Leu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and structural context.
I95L (p.Ile95Leu) variant details
- p.Ile95Leu
- ExAC rs62508682
- TOPMed rs62508682
- gnomAD rs62508682
- Likely pathogenic
- Missense
- MetaLR 0.90
- MetaSVM 0.84
- SIFT 0.19
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available