I65V (p.Ile65Val) variant of PAH (Phenylalanine-4-hydroxylase)
I65V (p.Ile65Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I65V (p.Ile65Val) variant details
- p.Ile65Val
- rs199475643
- ClinGen CA229478
- ClinVar RCV000088864
- ClinVar RCV000803656
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.80
- MetaLR 0.98
- MetaSVM 1.11
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. (PMID 12501224)
- Cited in: Mutation analysis in hyperphenylalaninemia patients from South Italy. (PMID 23792259)