M1V (p.Met1Val) variant of PAH (Phenylalanine-4-hydroxylase)
M1V (p.Met1Val) 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 population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs62514891
- ClinGen CA114360
- ClinVar RCV000000616
- ClinVar RCV000000617
- 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
- Population evidence available
- Structural context available
- Cited in: Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec. (PMID 1301193)
- Cited in: Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France. (PMID 1609797)