I35M (p.Ile35Met) variant of PAH (Phenylalanine-4-hydroxylase)
I35M (p.Ile35Met) 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 0.50 / 1. The record also includes published literature and structural context.
I35M (p.Ile35Met) variant details
- p.Ile35Met
- rs768048739
- ClinGen CA386302555
- ClinVar RCV001279868
- ExAC rs768048739
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.12
- MetaLR 0.79
- MetaSVM 0.15
- PolyPhen-2 0.00
- SIFT 0.13
- EVE 0.12
- 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)