I94V (p.Ile94Val) variant of PAH (Phenylalanine-4-hydroxylase)
I94V (p.Ile94Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I94V (p.Ile94Val) variant details
- p.Ile94Val
- rs528078207
- ClinGen CA6748988
- ClinVar RCV001114785
- ClinVar RCV003226435
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.55
- MetaLR 0.84
- MetaSVM 0.68
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)