M1R (p.Met1Arg) variant of PAH (Phenylalanine-4-hydroxylase)
M1R (p.Met1Arg) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs62508575
- ClinGen CA229509
- ClinVar RCV000088893
- ClinVar RCV000993612
- Pathogenic
- Missense
- MetaLR 0.97
- MetaSVM 1.02
- PolyPhen-2 0.72
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)