I95F (p.Ile95Phe) variant of PAH (Phenylalanine-4-hydroxylase)
I95F (p.Ile95Phe) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I95F (p.Ile95Phe) variant details
- p.Ile95Phe
- rs62508682
- ClinGen CA229507
- ClinVar RCV000088890
- ClinVar RCV000763292
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.66
- MetaLR 0.94
- MetaSVM 1.01
- CADD 20.40
- PolyPhen-2 0.11
- SIFT 0.13
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)