T22K (p.Thr22Lys) variant of PAH (Phenylalanine-4-hydroxylase)
T22K (p.Thr22Lys) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T22K (p.Thr22Lys) variant details
- p.Thr22Lys
- rs199565868
- ClinGen CA6749049
- ClinVar RCV000664768
- ClinVar RCV002265840
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.55
- MetaLR 0.87
- MetaSVM 0.87
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)