I95T (p.Ile95Thr) variant of PAH (Phenylalanine-4-hydroxylase)
I95T (p.Ile95Thr) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I95T (p.Ile95Thr) variant details
- p.Ile95Thr
- rs281865432
- ClinGen CA267649
- ClinVar RCV000106353
- ClinVar RCV003390792
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.72
- MetaLR 0.97
- MetaSVM 1.10
- CADD 23.90
- PolyPhen-2 0.46
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)