M1I (p.Met1Ile) variant of PAH (Phenylalanine-4-hydroxylase)
M1I (p.Met1Ile) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs62514893
- ClinGen CA229532
- ClinVar RCV000000653
- ClinVar RCV000088911
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- MetaLR 0.97
- MetaSVM 1.02
- PolyPhen-2 0.53
- SIFT 0.04
- MutPred 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. (PMID 1301947)
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)