M1T (p.Met1Thr) variant of PAH (Phenylalanine-4-hydroxylase)
M1T (p.Met1Thr) 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, population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs62508575
- ClinGen CA312807
- ClinVar RCV000186076
- ClinVar RCV000984289
- Pathogenic
- Missense
- MetaLR 0.97
- MetaSVM 1.02
- PolyPhen-2 0.72
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)