M1L (p.Met1Leu) variant of PAH (Phenylalanine-4-hydroxylase)
M1L (p.Met1Leu) 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 0.86 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs62514891
- ClinGen CA229482
- ClinVar RCV000088869
- ClinVar RCV000993611
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- MetaLR 0.96
- MetaSVM 0.90
- PolyPhen-2 0.17
- SIFT 0.60
- MutPred 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)