I65N (p.Ile65Asn) variant of PAH (Phenylalanine-4-hydroxylase)
I65N (p.Ile65Asn) 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 0.95 / 1. The record also includes published literature and structural context.
I65N (p.Ile65Asn) variant details
- p.Ile65Asn
- rs75193786
- ClinGen CA229479
- ClinVar RCV000088865
- ClinVar RCV000758100
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. (PMID 9521426)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)