T81N (p.Thr81Asn) variant of PAH (Phenylalanine-4-hydroxylase)
T81N (p.Thr81Asn) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T81N (p.Thr81Asn) variant details
- p.Thr81Asn
- rs796064502
- ClinGen CA275937
- ClinVar RCV000190376
- Ensembl rs796064502
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.86
- MetaLR 0.88
- MetaSVM 0.79
- CADD 24.00
- PolyPhen-2 0.60
- SIFT 0.04
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)