I97L (p.Ile97Leu) variant of PAH (Phenylalanine-4-hydroxylase)
I97L (p.Ile97Leu) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I97L (p.Ile97Leu) variant details
- p.Ile97Leu
- rs142516271
- ClinGen CA6748987
- ClinVar RCV000430873
- ClinVar RCV000664524
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.51
- MetaLR 0.76
- MetaSVM -0.19
- CADD 20.10
- PolyPhen-2 0.03
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.017)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)