N8T (p.Asn8Thr) variant of PAH (Phenylalanine-4-hydroxylase)
N8T (p.Asn8Thr) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
N8T (p.Asn8Thr) variant details
- p.Asn8Thr
- rs1878414153
- ClinGen CA386303870
- ClinVar RCV001109152
- Ensembl rs1878414153
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 0.07
- MetaLR 0.86
- MetaSVM 0.78
- PolyPhen-2 0.00
- SIFT 0.33
- MutPred 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)